Seroatlas · Human Serome Atlas

TTC7A

Tetratricopeptide repeat protein 7A

Also known as: KIAA1140, TTC7, TTC7A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9ULT0
Gene
TTC7A
Ensembl
ENSG00000068724
Chromosome
2
Canonical length
858 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

858 residues, UniProt reviewed canonical sequence.

>Q9ULT0|TTC7A
     1  MAAKGAHGSY LKVESELERC RAEGHWDRMP ELVRQLQTLS MPGGGGNRRG SPSAAFTFPD
    61  TDDFGKLLLA EALLEQCLKE NHAKIKDSMP LLEKNEPKMS EAKNYLSSIL NHGRLSPQYM
   121  CEAMLILGKL HYVEGSYRDA ISMYARAGID DMSMENKPLY QMRLLSEAFV IKGLSLERLP
   181  NSIASRFRLT EREEEVITCF ERASWIAQVF LQELEKTTNN STSRHLKGCH PLDYELTYFL
   241  EAALQSAYVK NLKKGNIVKG MRELREVLRT VETKATQNFK VMAAKHLAGV LLHSLSEECY
   301  WSPLSHPLPE FMGKEESSFA TQALRKPHLY EGDNLYCPKD NIEEALLLLL ISESMATRDV
   361  VLSRVPEQEE DRTVSLQNAA AIYDLLSITL GRRGQYVMLS ECLERAMKFA FGEFHLWYQV
   421  ALSMVACGKS AYAVSLLREC VKLRPSDPTV PLMAAKVCIG SLRWLEEAEH FAMMVISLGE
   481  EAGEFLPKGY LALGLTYSLQ ATDATLKSKQ DELHRKALQT LERAQQLAPS DPQVILYVSL
   541  QLALVRQISS AMEQLQEALK VRKDDAHALH LLALLFSAQK HHQHALDVVN MAITEHPENF
   601  NLMFTKVKLE QVLKGPEEAL VTCRQVLRLW QTLYSFSQLG GLEKDGSFGE GLTMKKQSGM
   661  HLTLPDAHDA DSGSRRASSI AASRLEEAMS ELTMPSSVLK QGPMQLWTTL EQIWLQAAEL
   721  FMEQQHLKEA GFCIQEAAGL FPTSHSVLYM RGRLAEVKGN LEEAKQLYKE ALTVNPDGVR
   781  IMHSLGLMLS RLGHKSLAQK VLRDAVERQS TCHEAWQGLG EVLQAQGQNE AAVDCFLTAL
   841  ELEASSPVLP FSIIPREL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTC7A 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • testis: 38 nTPM
  • thymus: 26 nTPM
  • bone marrow: 17 nTPM
  • adrenal gland: 14 nTPM
  • tonsil: 13 nTPM
  • pancreas: 12 nTPM

Single-cell type

  • late spermatids: 339 nCPM
  • microglia: 281 nCPM
  • adrenal cortex cells: 236 nCPM
  • fibro-adipogenic progenitors: 190 nCPM
  • choroid plexus epithelial cells: 187 nCPM
  • retinal pigment epithelial cells: 183 nCPM

Immune cell

  • memory B-cell: 1.1 nTPM
  • plasmacytoid DC: 1.1 nTPM
  • classical monocyte: 1 nTPM
  • memory CD4 T-cell: 0.8 nTPM
  • intermediate monocyte: 0.7 nTPM
  • myeloid DC: 0.6 nTPM

Brain region

  • choroid plexus: 18 nTPM
  • medulla oblongata: 12 nTPM
  • pons: 7.6 nTPM
  • thalamus: 7.6 nTPM
  • white matter: 7.5 nTPM
  • midbrain: 7.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTC7A.

Disease | AllUniProt

Conditions TTC7A is implicated in, by any mechanism.

  • Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) MIM:243150

Disease | GeneticClinVar

89 pathogenic / likely-pathogenic of 1,248 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Multiple gastrointestinal atresias
  • Gastrointestinal defects and immunodeficiency syndrome 1
  • Gastrointestinal defect and immunodeficiency syndrome
  • TTC7A-related disorder
  • Severe combined immunodeficiency disease

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)
1.29
gnomAD pLI
0
gnomAD missense Z
-0.77
DepMap mean gene effect
-0.24
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TTC7A 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 TTC7A as an antibody target. Whether an autoantibody or antibody against TTC7A could matter depends on whether native TTC7A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTC7A is annotated at the cell surface, where native TTC7A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TTC7A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TTC7A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...