ENSMUSG00000025531


Mus musculus

Features
Gene ID: ENSMUSG00000025531
  
Biological name :Chm
  
Synonyms : Chm / choroidermia (RAB escort protein 1)
  
Possible biological names infered from orthology : CHM, Rab escort protein 1 / P24386
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: E1
Gene start: 113040593
Gene end: 113185517
  
Corresponding Affymetrix probe sets: 10606513 (MoGene1.0st)   1439824_at (Mouse Genome 430 2.0 Array)   1448712_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026607
Ensembl peptide - ENSMUSP00000109015
NCBI entrez gene - 12662     See in Manteia.
MGI - MGI:892979
RefSeq - XM_006528384
RefSeq - NM_018818
RefSeq - XM_006528381
RefSeq - XM_006528382
RefSeq - XM_006528383
RefSeq Peptide - NP_061288
swissprot - Q3UR39
swissprot - A2AD03
Ensembl - ENSMUSG00000025531
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 chmENSDARG00000003845Danio rerio
 CHMENSGALG00000006906Gallus gallus
 CHMENSG00000188419Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Chml / choroideremia-like / P26374* / CHM like, Rab escort protein 2*ENSMUSG0000007818561
Gdi2 / Q61598 / Rab GDP dissociation inhibitor beta / P50395* / GDP dissociation inhibitor 2*ENSMUSG0000002121816
Gdi1 / P50396 / Rab GDP dissociation inhibitor alpha / P31150* / GDP dissociation inhibitor 1*ENSMUSG0000001529116


Protein motifs (from Interpro)
Interpro ID Name
 IPR001738  Rab protein geranylgeranyltransferase component A
 IPR018203  GDP dissociation inhibitor
 IPR036188  FAD/NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006612 protein targeting to membrane IEA
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0018344 protein geranylgeranylation IEA
 biological_processGO:0050790 regulation of catalytic activity IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005968 Rab-protein geranylgeranyltransferase complex IEA
 molecular_functionGO:0005092 GDP-dissociation inhibitor activity IEA
 molecular_functionGO:0017137 Rab GTPase binding IEA


Pathways (from Reactome)
Pathway description
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: B4galt1tm1Yiw/B4galt1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Chmtm1.1Seab/Chmtm1.1Seab,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Chmtm1.1Seab/Y,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

 MP:0001716 abnormal placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [J:23171]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0002584 small ectoplacental cone 
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003403 absent placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:73417]
Show

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: B4galt1tm1Yiw/B4galt1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: B4galt1tm1Yiw/B4galt1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Chmtm1.1Seab/Chmtm1.1Seab,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Chmtm1.1Seab/Y,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004255 abnormal spongiotrophoblast layer morphology "anomaly in the structure of the outer structural layer of the rodent placenta" [PMID:11433360]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004259 small placenta "reduced size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005031 abnormal trophoblast "malformation of the mesectodermal cell layer covering the blastocyst that erodes the uterine mucosa and contributes to the formation of the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: B4galt1tm1Yiw/B4galt1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chmtm1.3Seab/Chm+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Chmtm1.1Seab/Chmtm1.1Seab,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Chmtm1.1Seab/Y,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: B4galt1tm1Yiw/B4galt1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Chmtm1.1Seab/Chmtm1.1Seab,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Chmtm1.1Seab/Y,Tg(Six3-cre)69Frty/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0009657 failure of chorioallantoic fusion "failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

 MP:0011204 abnormal visceral yolk sac blood island morphology "any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152]
Show

Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011523 thin placenta labyrinth "decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith]
Show

Allelic Composition: Chmtm1Jvdh/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000019832 Rab32 / Q9CZE3 / RAB32, member RAS oncogene family / Q13637*  / complex
 ENSMUSG00000002668 Q8CFK6 / Dennd1c / DENN domain-containing protein 1C / Q8IV53* / DENN domain containing 1C*  / reaction
 ENSMUSG00000030704 Rab6a / P35279 / RAB6A, member RAS oncogene family / RAB6C* / RAB6D* / Q9H0N0* / P20340* / RAB6C, member RAS oncogene family* / RAB6D, member RAS oncogene family*  / complex
 ENSMUSG00000020132 Rab21 / P35282 / RAB21, member RAS oncogene family / Q9UL25*  / complex
 ENSMUSG00000056515 Rab31 / RAB31, member RAS oncogene family / Q13636*  / complex
 ENSMUSG00000079477 Rab7 / P51150 / RAB7, member RAS oncogene family / RAB7A* / P51149* / RAB7A, member RAS oncogene family*  / complex
 ENSMUSG00000031840 Rab3a / P63011 / RAB3A, member RAS oncogene family / P20336*  / complex
 ENSMUSG00000073639 Rab18 / P35293 / RAB18, member RAS oncogene family / Q9NP72*  / complex
 ENSMUSG00000017831 Rab5a / Q9CQD1 / Ras-related protein Rab-5A / P20339* / RAB5A, member RAS oncogene family*  / complex
 ENSMUSG00000032202 Q9ERI2 / Rab27a / RAB27A, member RAS oncogene family / P51159*  / complex
 ENSMUSG00000003037 Rab8a / P55258 / RAB8A, member RAS oncogene family / P61006*  / complex
 ENSMUSG00000020671 Rab10 / P61027 / RAB10, member RAS oncogene family / P61026*  / complex
 ENSMUSG00000040472 Q9JHK4 / Rabggta / Geranylgeranyl transferase type-2 subunit alpha / Q92696* / Rab geranylgeranyltransferase alpha subunit*  / reaction / complex
 ENSMUSG00000038975 P53612 / Rabggtb / Rab geranylgeranyl transferase, b subunit / P53611* / Rab geranylgeranyltransferase beta subunit*  / reaction / complex
 ENSMUSG00000020149 Rab1 / P62821 / Ras-related protein Rab-1A / RAB1A* / P62820* / RAB1A, member RAS oncogene family*  / complex
 ENSMUSG00000027935 Rab13 / Q9DD03 / Ras-related protein Rab-13 / P51153* / RAB13, member RAS oncogene family*  / complex
 ENSMUSG00000029518 Rab35 / Q6PHN9 / RAB35, member RAS oncogene family / Q15286*  / complex
 ENSMUSG00000023460 Rab12 / P35283 / Ras-related protein Rab-12 / Q6IQ22* / RAB12, member RAS oncogene family*  / complex
 ENSMUSG00000026878 Rab14 / Q91V41 / RAB14, member RAS oncogene family / P61106*  / complex
 ENSMUSG00000026867 Gapvd1 / Q6PAR5 / GTPase-activating protein and VPS9 domain-containing protein 1 / Q14C86* / GTPase activating protein and VPS9 domains 1*  / reaction
 ENSMUSG00000028468 Rgp1 / Q8BHT7 / RAB6A-GEF complex partner protein 2 / Q92546* / RGP1 homolog, RAB6A GEF complex partner 1*  / reaction
 ENSMUSG00000036104 Q80UJ7 / Rab3gap1 / Rab3 GTPase-activating protein catalytic subunit / Q15042* / RAB3 GTPase activating protein catalytic subunit 1*  / reaction
 ENSMUSG00000038456 Q8C4S8 / Dennd2a / DENN domain-containing protein 2A / Q9ULE3* / DENN domain containing 2A*  / reaction
 ENSMUSG00000036661 A2RT67 / Dennd3 / DENN domain-containing protein 3 / A2RUS2* / DENN domain containing 3*  / reaction
 ENSMUSG00000042328 Hps4 / Q99KG7 / Hermansky-Pudlak syndrome 4 protein homolog / Q9NQG7* / HPS4, biogenesis of lysosomal organelles complex 3 subunit 2*  / reaction
 ENSMUSG00000053641 Dennd4a / DENN domain containing 4A / Q7Z401*  / reaction
 ENSMUSG00000034867 Q3UMR0 / Ankrd27 / Ankyrin repeat domain-containing protein 27 / Q96NW4* / ankyrin repeat domain 27*  / reaction
 ENSMUSG00000029617 Ccz1 / Q8C1Y8 / Vacuolar fusion / CCZ1B* / P86790* / P86791* / CCZ1 homolog, vacuolar protein trafficking and biogenesis associated* / CCZ1 homolog B, vacuolar protein trafficking and bio...  / reaction
 ENSMUSG00000032583 Mon1a / MON1 homolog A, secretory trafficking associated / Q86VX9*  / reaction
 ENSMUSG00000040818 Q8BH65 / Dennd6a / Protein DENND6A / Q8IWF6* / DENN domain containing 6A*  / reaction
 ENSMUSG00000038658 Ric1 / Q69ZJ7 / RAB6A-GEF complex partner protein 1 / Q4ADV7* / RIC1 homolog, RAB6A GEF complex partner 1*  / reaction
 ENSMUSG00000079316 Rab9 / Q9R0M6 / RAB9, member RAS oncogene family / RAB9A* / P51151* / RAB9A, member RAS oncogene family*  / complex
 ENSMUSG00000020849 Ywhae / P62259 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide / P62258* / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation prote...  / reaction
 ENSMUSG00000044456 Rin3 / P59729 / Ras and Rab interactor 3 / Q8TB24*  / reaction
 ENSMUSG00000038024 A6H8H2 / Dennd4c / DENN domain-containing protein 4C / Q5VZ89* / DENN domain containing 4C*  / reaction
 ENSMUSG00000039318 Rab3gap2 / RAB3 GTPase activating non-catalytic protein subunit 2 / Q9H2M9*  / reaction
 ENSMUSG00000055069 Rab39 / Q8BHD0 / RAB39, member RAS oncogene family / Q14964* / RAB39A* / RAB39A, member RAS oncogene family*  / complex
 ENSMUSG00000035901 Q6PAL8 / Dennd5a / DENN domain-containing protein 5A / Q6IQ26* / DENN domain containing 5A*  / reaction
 ENSMUSG00000015377 Q9D9V7 / Dennd6b / Protein DENND6B / Q8NEG7* / DENN domain containing 6B*  / reaction
 ENSMUSG00000056268 Q3U1T9 / Dennd1b / DENN domain-containing protein 1B / Q6P3S1* / DENN domain containing 1B*  / reaction
 ENSMUSG00000035392 Q8K382 / Dennd1a / DENN domain-containing protein 1A / Q8TEH3* / DENN domain containing 1A*  / reaction
 ENSMUSG00000030559 Rab38 / Q8QZZ8 / RAB38, member RAS oncogene family / P57729*  / complex
 ENSMUSG00000042404 Q3U1Y4 / Dennd4b / Mus musculus DENN/MADD domain containing 4B (Dennd4b), transcript variant 2, mRNA. / O75064* / DENN domain containing 4B*  / reaction
 ENSMUSG00000024663 Q8VDV3 / Rab3il1 / Mus musculus RAB3A interacting protein (rabin3)-like 1 (Rab3il1), transcript variant 2, mRNA. / Q8TBN0* / RAB3A interacting protein like 1*  / reaction
 ENSMUSG00000030313 A2RSQ0 / Dennd5b / DENN domain-containing protein 5B / Q6ZUT9* / DENN domain containing 5B*  / reaction
 ENSMUSG00000036529 Sbf1 / Q6ZPE2 / SET binding factor 1 / O95248*  / reaction






 

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