SAMD7

Protein identityUniProt · HPA

UniProt accession

Q7Z3H4

Gene

SAMD7

Ensembl

ENSG00000187033

Chromosome

3

Canonical length

446 aa

Protein class

Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

446 residues, UniProt reviewed canonical sequence.

>Q7Z3H4|SAMD7
     1  MAVNPLLTPT GQQTIPLIPS PFGPPTVDRD VLPSTVAPTD PRQFCVPSQF GSSVLPNTNM
    61  ANVLSSRIYP GWGILPPESI KAVARRNEMI QRHHTARTEM EMYAIYQQRR MEKINPKGLA
   121  GLGIPFLYGS SVPAAPAAYH GRSMLPAGDL HFHRSTLRNL QGNPMLAATA PHFEESWGQR
   181  CRRLRKNTGN QKALDSDAES SKSQAEEKIL GQTHAVPYEE DHYAKDPDIE APSNQKSSET
   241  NEKPTTALAN TCGELEPTHR KPWGSHTTTL KAKAWDDGKE EASEQIFATC DEKNGVCPPV
   301  PRPSLPGTHA LVTIGGNLSL DEDIQKWTVD DVHSFIRSLP GCSDYAQVFK DHAIDGETLP
   361  LLTEEHLRGT MGLKLGPALK IQSQVSQHVG SMFYKKTLSF PIRQAFDQPA DTSPLLDPNS
   421  WSDTMNIFCP QDTIIPKGIE RGSMRN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAMD7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.64

Highest tissue expression

124 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAMD7.

Disease | AllUniProt

Conditions SAMD7 is implicated in, by any mechanism.

• Macular dystrophy with or without cone dysfunction (MDCD) MIM:620762

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 69 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MACULAR DYSTROPHY WITH CONE DYSFUNCTION
• Macular dystrophy with or without cone dysfunction

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.06

gnomAD pLI

0

gnomAD missense Z

0.18

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of DNA-templated transcription
• negative regulation of gene expression, epigenetic
• retinal rod cell development

Molecular functions

• chromatin binding
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• histone binding

Cellular components

• cytoplasm
• nucleus
• PRC1 complex

Protein domainsUniProt · Pfam · InterPro

• Sterile alpha motif domain
• Sterile alpha motif/pointed domain superfamily
• Polycomb group and chromatin remodeling factors
• SAM domain (Sterile alpha motif)

KeywordsUniProt

• Cytoplasm
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of SAMD7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NR2E3
• PHC2
• RNF1
• SAMD11
• RNF2