Seroatlas · Human Serome Atlas

SH3GL1

Endophilin-A2

Also known as: CNSA1, EEN, MGC111371, SH3D2B, SH3G1_HUMAN, SH3P8

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q99961
Gene: SH3GL1
Ensembl: ENSG00000141985
Chromosome: 19
Canonical length: 368 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

368 residues, UniProt reviewed canonical sequence.

>Q99961|SH3GL1
     1  MSVAGLKKQF YKASQLVSEK VGGAEGTKLD DDFKEMEKKV DVTSKAVTEV LARTIEYLQP
    61  NPASRAKLTM LNTVSKIRGQ VKNPGYPQSE GLLGECMIRH GKELGGESNF GDALLDAGES
   121  MKRLAEVKDS LDIEVKQNFI DPLQNLCEKD LKEIQHHLKK LEGRRLDFDY KKKRQGKIPD
   181  EELRQALEKF EESKEVAETS MHNLLETDIE QVSQLSALVD AQLDYHRQAV QILDELAEKL
   241  KRRMREASSR PKREYKPKPR EPFDLGEPEQ SNGGFPCTTA PKIAASSSFR SSDKPIRTPS
   301  RSMPPLDQPS CKALYDFEPE NDGELGFHEG DVITLTNQID ENWYEGMLDG QSGFFPLSYV
   361  EVLVPLPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH3GL1 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 173 nTPM

Expression across tissuesHPA

Tissue

esophagus: 173 nTPM
skin: 114 nTPM
vagina: 88 nTPM
cervix: 77 nTPM
adrenal gland: 63 nTPM
adipose tissue: 58 nTPM

Single-cell type

esophageal apical cells: 1,038 nCPM
neutrophils: 229 nCPM
extravillous trophoblasts: 212 nCPM
esophageal suprabasal cells: 176 nCPM
suprabasal keratinocytes: 160 nCPM
migrating cytotrophoblasts: 117 nCPM

Immune cell

neutrophil: 5.6 nTPM
T-reg: 4.1 nTPM
memory CD4 T-cell: 4 nTPM
memory CD8 T-cell: 3.9 nTPM
plasmacytoid DC: 3.8 nTPM
memory B-cell: 3.6 nTPM

Brain region

hippocampal formation: 72 nTPM
cerebral cortex: 71 nTPM
cerebellum: 68 nTPM
white matter: 57 nTPM
medulla oblongata: 53 nTPM
amygdala: 52 nTPM

ReferencesPubMed · IEDB

Publications for SH3GL1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

2 publications

Autologous antibody to src-homology 3-domain GRB2-like 1 specifically increases in the sera of patients with low-grade gliomas.
2012 · J Exp Clin Cancer Res · RCR 0.8 · 30 citations
Autoantibodies against Endophilin A2 as a novel biomarker are beneficial to early diagnosis of breast cancer.
2024 · Clin Chim Acta · RCR 0.4 · 2 citations

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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): 0.64
gnomAD pLI: 0.01
gnomAD missense Z: 0.92
DepMap mean gene effect: -0.17
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SH3GL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SH3GL1 as an antibody target. Whether an autoantibody or antibody against SH3GL1 could matter depends on whether native SH3GL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SH3GL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SH3GL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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