ENSMUSG00000038000


Mus musculus

Features
Gene ID: ENSMUSG00000038000
  
Biological name :Acd
  
Synonyms : Acd / adrenocortical dysplasia / Q5EE38
  
Possible biological names infered from orthology : ACD, shelterin complex subunit and telomerase recruitment factor / Q96AP0
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: D3
Gene start: 105695860
Gene end: 105701102
  
Corresponding Affymetrix probe sets: 10581311 (MoGene1.0st)   1420882_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000048180
Ensembl peptide - ENSMUSP00000148663
Ensembl peptide - ENSMUSP00000148510
Ensembl peptide - ENSMUSP00000148285
NCBI entrez gene - 497652     See in Manteia.
MGI - MGI:87873
RefSeq - XM_006531169
RefSeq - XM_006531174
RefSeq - XM_006531175
RefSeq - XM_006531176
RefSeq - XM_011248435
RefSeq - XM_006531170
RefSeq - NM_001012638
RefSeq Peptide - NP_001012656
swissprot - Q5EE38
swissprot - A0A1D5RM77
swissprot - A0A1D5RLU6
swissprot - A0A1D5RLA2
swissprot - B2RS36
Ensembl - ENSMUSG00000038000
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000044706Gallus gallus
 ACDENSG00000102977Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR028631  Adrenocortical dysplasia protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0001501 skeletal system development IMP
 biological_processGO:0001655 urogenital system development IMP
 biological_processGO:0006886 intracellular protein transport ISO
 biological_processGO:0016233 telomere capping IEA
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0031848 protection from non-homologous end joining at telomere IMP
 biological_processGO:0032202 telomere assembly ISO
 biological_processGO:0032211 negative regulation of telomere maintenance via telomerase ISO
 biological_processGO:0032212 positive regulation of telomere maintenance via telomerase ISO
 biological_processGO:0035282 segmentation IMP
 biological_processGO:0051973 positive regulation of telomerase activity ISO
 biological_processGO:0060381 positive regulation of single-stranded telomeric DNA binding ISO
 biological_processGO:0070198 protein localization to chromosome, telomeric region ISO
 biological_processGO:0070200 establishment of protein localization to telomere ISO
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000783 nuclear telomere cap complex IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0016604 nuclear body ISO
 cellular_componentGO:0070187 shelterin complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042162 telomeric DNA binding IDA
 molecular_functionGO:0044877 protein-containing complex binding ISO
 molecular_functionGO:0070182 DNA polymerase binding ISO


Pathways (from Reactome)
Pathway description
Packaging Of Telomere Ends
DNA Damage/Telomere Stress Induced Senescence


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0000378 absent hair follicles "missing epidermal invaginations from which the hair shaft develops" [J:65039]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0000424 retarded hair growth "slow growth of the hair, appears at normal time" [J:5476]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0000639 abnormal adrenal gland morphology "malformed endocrine glands located above the kidney responsible for hormone and epinephrine secretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61190]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0000640 adrenal gland hypoplasia "underdeveloped endocrine glands located above the kidney and responsible for hormone and epinephrine secretion, resulting from reduced numbers of cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0000648 absent sebaceous gland "missing the holocrine glands of the dermis that secrete sebum into the hair follicles" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0001188 hyperpigmentation "excess of pigment in any or all tissues or a part of a tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50311]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0001192 scaly skin "skin covered with shedding scales or flakes" [J:65146]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0001274 curly vibrissae "whiskers twisted into coils or spirals" [J:47620]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0001282 short vibrissae "decreased length of the vibrissae" [J:30249]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0001438 aphagia "inability to eat " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:30404]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0002009 preneoplasia "state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development" [J:47225]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0002074 abnormal hair texture "irregular or unusual appearance of the structure of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0002095 abnormal skin pigmentation "variation of skin color or complexion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0002665 decreased circulating corticosterone level "less than the normal blood concentration of this adrenocortical steroid; induces glycogen deposition and regulates sodium conservation and potassium secretion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0002768 small adrenal glands "reduced size of endocrine glands located above the kidneys responsible for hormone and epinephrine secretion" [J:78062]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003077 abnormal cell cycle "failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003155 abnormal telomere length "abnormal length of the terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability; normal length is a few hundred base pairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1nmf223/Lama1tm1.1Olf
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003704 abnormal hair follicle development "anomalous development of the epidermis from which the hair shaft develops " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003745 abnormal mucosal lining of the mouth "anomalous structure or development of the mucus -secreting tissue that lines the oral cavity" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003853 dry skin "skin characterized by the lack of natural or normal moisture" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall1tm1.1Mrau/Sall1+
Genetic Background: involves: 129X1/SvJ

 MP:0003963 abnormal corticosterone level "anomalous blood or tissue concentration of this adrenocortical steroid; induces glycogen deposition and regulates sodium conservation and potassium secretion" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0003965 abnormal pituitary hormone level "aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0003966 abnormal adrenocorticotropin level 
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0004025 polyploidy "more than two chromosome sets are present" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1nmf223/Lama1tm1.1Olf
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Acdtm1.1Blas/Acdtm1.1Blas,Tg(KRT5-cre)1Tak/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

 MP:0004045 abnormal cell cycle checkpoint function "anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Acdtm1.1Blas/Acdtm1.1Blas,Tg(KRT5-cre)1Tak/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Acdtm1.1Blas/Acdtm1.1Blas,Tg(KRT5-cre)1Tak/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

 MP:0005129 increased adrenocorticotropin level "increased concentration of adrenocorticotropic hormone " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Acdacd/Acdacd
Genetic Background: DW/J-Acdacd Pou1f1+

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1nmf223/Lama1tm1.1Olf
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0008008 early cellular replicative senescence "increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lama1nmf223/Lama1tm1.1Olf
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0009931 abnormal skin appearance "skin that looks different from the usual state" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Acdtm1.1Blas/Acdtm1.1Blas,Tg(KRT5-cre)1Tak/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Acdtm1.1Blas/Acdtm1.1Blas,Tg(KRT5-cre)1Tak/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

 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: Lama1nmf223/Lama1tm1.1Olf
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0011276 increased tail pigmentation "visually detectable excess of pigment present on the tail surface" [MGI:csmith]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0011278 increased ear pigmentation "visually detectable excess of pigment present in the outer ear" [MGI:csmith]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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