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TTC7A

GENERAL INFORMATION

Gene name

 TTC7A

Gene description

 Tetratricopeptide repeat domain 7A

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression, which often had a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 2 antibodies.
HPA036781 , HPA036782
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 TTC7A (HGNC Symbol)

Synonyms

 KIAA1140, TTC7

Description

 Tetratricopeptide repeat domain 7A (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 2

Cytoband

 p21

Chromosome location (bp)

 46916157 - 47076137

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000068724 (version 83.38)

Entrez gene

 57217

UniProt

 Q9ULT0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9ULT0

Antibodypedia

 TTC7A antibodies

PROTEIN BROWSER
TTC7A-001
TTC7A-002
TTC7A-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TTC7A-001
ENSP00000316699
ENST00000319190
Q9ULT0 [Direct mapping]
Tetratricopeptide repeat protein 7A
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 858 aa
96.2 kDa 		No 0
TTC7A-002
ENSP00000378320
ENST00000394850
Q9ULT0 [Direct mapping]
Tetratricopeptide repeat protein 7A
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005623 [cell]
GO:0006879 [cellular iron ion homeostasis]
GO:0030097 [hemopoiesis]
Show all
 882 aa
98.9 kDa 		No 0
TTC7A-005
ENSP00000386307
ENST00000409245
G5E9G4 [Direct mapping]
Tetratricopeptide repeat domain 7A, isoform CRA_a; Tetratricopeptide repeat protein 7A
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 824 aa
92.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.