SAMD9L
entrez
219285
canonical
uniprot
Q8IVG5
canonical
ensembl
ENSG00000177409
resolver
ensp
ENSP00000326247
resolver
ensp
ENSP00000391387
resolver
ensp
ENSP00000391699
resolver
ensp
ENSP00000405760
resolver
ensp
ENSP00000408796
resolver
ensp
ENSP00000410062
resolver
ensp
ENSP00000514494
resolver
genesymbol
SAMD9L
resolver
genesymbol_syn
C7orf6
resolver
genesymbol_syn
DRIF2
resolver
genesymbol_syn
KIAA2005
resolver
genesymbol_syn
UEF
resolver
hgnc
HGNC:1349
resolver
uniprot
A0JP23
resolver
uniprot
A0JP24
resolver
uniprot
A0PJG8
resolver
uniprot
A4D1G8
resolver
uniprot
D6W5Q6
resolver
uniprot
Q2TV71
resolver
uniprot
Q2TV75
resolver
uniprot
Q2UZV8
resolver
uniprot
Q8IWI4
resolver
uniprot
Q8N3L9
resolver
uniprot
Q8N875
resolver
uniprot_entry
SAM9L_HUMAN
resolver
uniprot_sec
A0JP23
resolver
uniprot_sec
A0JP24
resolver
uniprot_sec
A0PJG8
resolver
uniprot_sec
A4D1G8
resolver
uniprot_sec
D6W5Q6
resolver
uniprot_sec
Q2TV71
resolver
uniprot_sec
Q2TV75
resolver
uniprot_sec
Q2UZV8
resolver
uniprot_sec
Q8IWI4
resolver
uniprot_sec
Q8N3L9
resolver
uniprot_sec
Q8N875
resolver
amino_acid_sequence
MSKQVSLPEMIKDWTKEHVKKWVNEDLKINEQYGQILLSEEVTGLVLQELTEKDLVEMGLPWGPALLIKRSYNKLNSKSPESDNHDPGQLDNSKPSKTEHQKNPKHTKKEEENSMSSNIDYDPREIRDIKQEESILMKENVLDEVANAKHKKKGKLKPEQLTCMPYPFDQFHDSHRYIEHYTLQPETGALNLIDPIHEFKALTNTETATEVDIKMKFSNEVFRFASACMNSRTNGTIHFGVKDKPHGEIVGVKITSKAAFIDHFNVMIKKYFEESEINEAKKCIREPRFVEVLLQNNTPSDRFVIEVDTIPKHSICNDKYFYIQMQICKDKIWKQNQNLSLFVREGASSRDILANSKQRDVDFKAFLQNLKSLVASRKEAEEEYGMKAMKKESEGLKLVKLLIGNRDSLDNSYYDWYILVTNKCHPNQIKHLDFLKEIKWFAVLEFDPESMINGVVKAYKESRVANLHFPNQYEDKTTNMWEKISTLNLYQQPSWIFCNGRSDLKSETYKPLEPHLWQRERASEVRKLILFLTDENIMTRGKFLVVFLLLSSVESPGDPLIETFWAFYQALKGMENMLCISVNSHIYQRWKDLLQTRMKMEDELTNHSISTLNIELVNSTILKLKSVTRSSRRFLPARGSSSVILEKKKEDVLTALEILCENECTETDIEKDKSKFLEFKKSKEEHFYRGGKVSWWNFYFSSENYSSDFVKRDSYEKLKDLIHCWAESPKPIFAKIINLYHHPGCGGTTLAMHVLWDLKKNFRCAVLKNKTTDFAEIAEQVINLVTYRAKSHQDYIPVLLLVDDFEEQENVYFLQNAIHSVLAEKDLRYEKTLVIILNCMRSRNPDESAKLADSIALNYQLSSKEQRAFGAKLKEIEKQHKNCENFYSFMIMKSNFDETYIENVVRNILKGQDVDSKEAQLISFLALLSSYVTDSTISVSQCEIFLGIIYTSTPWEPESLEDKMGTYSTLLIKTEVAEYGRYTGVRIIHPLIALYCLKELERSYHLDKCQIALNILEENLFYDSGIGRDKFQHDVQTLLLTRQRKVYGDETDTLFSPLMEALQNKDIEKVLSAGSRRFPQNAFICQALARHFYIKEKDFNTALDWARQAKMKAPKNSYISDTLGQVYKSEIKWWLDGNKNCRSITVNDLTHLLEAAEKASRAFKESQRQTDSKNYETENWSPQKSQRRYDMYNTACFLGEIEVGLYTIQILQLTPFFHKENELSKKHMVQFLSGKWTIPPDPRNECYLALSKFTSHLKNLQSDLKRCFDFFIDYMVLLKMRYTQKEIAEIMLSKKVSRCFRKYTELFCHLDPCLLQSKESQLLQEENCRKKLEALRADRFAGLLEYLNPNYKDATTMESIVNEYAFLLQQNSKKPMTNEKQNSILANIILSCLKPNSKLIQPLTTLKKQLREVLQFVGLSHQYPGPYFLACLLFWPENQELDQDSKLIEKYVSSLNRSFRGQYKRMCRSKQASTLFYLGKRKGLNSIVHKAKIEQYFDKAQNTNSLWHSGDVWKKNEVKDLLRRLTGQAEGKLISVEYGTEEKIKIPVISVYSGPLRSGRNIERVSFYLGFSIEGPLAYDIEVI
uniprot
proteins
disease_involvement
DISEASE: Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. {ECO:0000269|PubMed:27259050}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) [MIM:252270]: A hematologic disorder characterized by bone marrow dyspoiesis and pancytopenia manifesting in early childhood, associated with monosomy 7 in the bone marrow. Disease severity ranges from transient thrombocytopenia or anemia, or normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7, to frank myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1 inheritance is autosomal dominant with incomplete penetrance and variable expressivity. {ECO:0000269|PubMed:30046003}. Note=The disease is caused by variants affecting the gene represented in this entry. Germline variants in SAMD9L with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia. {ECO:0000269|PubMed:30046003}.; DISEASE: Spinocerebellar ataxia 49 (SCA49) [MIM:619806]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA49 is an autosomal dominant, slowly progressive form characterized by ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals present with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs. Age of disease onset ranges from the second to seventh decades, even within the same family. {ECO:0000269|PubMed:35310830}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors. {ECO:0000250|UniProtKB:Q69Z37}.
uniprot
proteins
mass_dalton
184533
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17407603
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24029230
uniprot
proteins
pubmed
27259050
uniprot
proteins
pubmed
30046003
uniprot
proteins
pubmed
35310830
uniprot
proteins
sequence_length
1584
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome {ECO:0000250|UniProtKB:Q69Z37}. Mitochondrion {ECO:0000269|PubMed:35310830}.
uniprot
proteins