Manteia

ENSMUSG00000030101

Mus musculus

Features

Gene ID:	ENSMUSG00000030101

Biological name :	Sumf1

Synonyms :	Q8R0F3 / Sulfatase-modifying factor 1 / Sumf1

Possible biological names infered from orthology :	Q8NBK3

Species:	Mus musculus

Chr. number:	6
Strand:	-1
Band:	E1
Gene start:	108107028
Gene end:	108185582

Corresponding Affymetrix probe sets:	10546791 (MoGene1.0st) 1424603_at (Mouse Genome 430 2.0 Array) 1424604_s_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000132321 Ensembl peptide - ENSMUSP00000032191 Ensembl peptide - ENSMUSP00000127537 Ensembl peptide - ENSMUSP00000130061 NCBI entrez gene - 58911 See in Manteia. MGI - MGI:1889844 RefSeq - XM_006506445 RefSeq - NM_145937 RefSeq - XM_006506444 RefSeq Peptide - NP_666049 swissprot - E9Q0Z7 swissprot - Q8R0F3 swissprot - F6QZU1 swissprot - E9Q265 Ensembl - ENSMUSG00000030101

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
sumf1	ENSDARG00000044203	Danio rerio
SUMF1	ENSGALG00000008286	Gallus gallus
SUMF1	ENSG00000144455	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Sumf2 / Q8BPG6 / Sulfatase-modifying factor 2 / Q8NBJ7*	ENSMUSG00000025538	37

Protein motifs (from Interpro)

Interpro ID	Name
IPR005532	Sulfatase-modifying factor enzyme
IPR016187	C-type lectin fold

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0055114	oxidation-reduction process	IEA
cellular_component	GO:0005783	endoplasmic reticulum	IDA
cellular_component	GO:0005788	endoplasmic reticulum lumen	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0016491	oxidoreductase activity	IEA
molecular_function	GO:0042803	protein homodimerization activity	IPI
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

Glycosphingolipid metabolism

The activation of arylsulfatases

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000131	abnormal long bone epiphysis morphology	"the head of a developing long bone that is separated from the shaft by the epiphyseal plate" [J:61509]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000133	abnormal long bone metaphysis morphology	"malformed conical section of bone between the epiphysis and diaphysis of the long bones" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61295]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000136	abnormal microglial cell morphology	"anomalous structure, number, or composition of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:71688]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000160	kyphosis	"forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000428	abnormal craniofacial morphology	"anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000547	short limbs	"reduced average length of the extremities" [MGI:CLS, J:61509]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000745	tremors	"repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0000880	decreased Purkinje cell number	"fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0001513	limb grasping	"mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0002064	seizures	"sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
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: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0002182	abnormal astrocyte morphology	"anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0002446	abnormal macrophage morphology	"anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0002932	abnormal joint	"defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0003047	abnormal thoracic vertebrae morphology	"malformation of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0003203	increased neuron apoptosis	"increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0003887	increased hepatocyte apoptosis	"increase in the number of hepatocytes undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0004097	abnormal cerebellar cortex morphology	"any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0004686	decreased length of long bones	"reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0005425	increased macrophage count	"greater than the normal numbers of macrophages" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:73418]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0006082	CNS inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0008525	decreased skull height	"decrease in the distance between the cranial base and the upper domelike portion of the skull" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0011086	partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Sirt1^tm1.1Ygu/Sirt1^tm1.1Ygu Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Rad9a^{tm1.1(KOMP)Wtsi}/Rad9a^{tm1.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Rad9a^{tm1.1(KOMP)Wtsi}/Bay

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000025538	Sumf2 / Q8BPG6 / Sulfatase-modifying factor 2 / Q8NBJ7*	/ reaction / complex

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr