Seroatlas · Human Serome Atlas

AMMECR1

Nuclear protein AMMECR1

Also known as: AMMR1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9Y4X0
Gene: AMMECR1
Ensembl: ENSG00000101935
Chromosome: X
Canonical length: 333 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>Q9Y4X0|AMMECR1
     1  MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT
    61  GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG
   121  SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS
   181  AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR
   241  IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE
   301  KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMMECR1 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): 0.44
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

retina: 13 nTPM
bone marrow: 13 nTPM
esophagus: 7.7 nTPM
skin: 7 nTPM
placenta: 6.6 nTPM
ovary: 5.4 nTPM

Single-cell type

cardiomyocytes: 1,502 nCPM
choroid plexus epithelial cells: 1,339 nCPM
pituitary stem cells: 295 nCPM
erythrocyte progenitors: 227 nCPM
syncytiotrophoblasts: 188 nCPM
rod photoreceptor cells: 184 nCPM

Immune cell

memory CD4 T-cell: 3.2 nTPM
non-classical monocyte: 2.8 nTPM
memory CD8 T-cell: 2.6 nTPM
T-reg: 2.3 nTPM
naive B-cell: 2.2 nTPM
MAIT T-cell: 2.1 nTPM

Brain region

choroid plexus: 17 nTPM
cerebral cortex: 4 nTPM
hypothalamus: 3.8 nTPM
cerebellum: 3.7 nTPM
amygdala: 3.5 nTPM
basal ganglia: 3.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMMECR1.

Disease | AllUniProt

Conditions AMMECR1 is implicated in, by any mechanism.

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) MIM:300990
AMME complex (ATS-MR) MIM:300194

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 125 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Short stature
Nephrocalcinosis

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): 0.47
gnomAD pLI: 0.82
gnomAD missense Z: 1.08
DepMap mean gene effect: 0.12
DepMap dependency class: none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AMMECR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

EFEMP2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AMMECR1 as an antibody target. Whether an autoantibody or antibody against AMMECR1 could matter depends on whether native AMMECR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AMMECR1 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 AMMECR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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