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TTC7A tetratricopeptide repeat domain 7A [ Homo sapiens (human) ]

Gene ID: 57217, updated on 3-Dec-2024

Summary

Official Symbol
TTC7Aprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 7Aprovided by HGNC
Primary source
HGNC:HGNC:19750
See related
Ensembl:ENSG00000068724 MIM:609332; AllianceGenome:HGNC:19750
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTC7; GIDID; MINAT
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]
Expression
Broad expression in testis (RPKM 14.8), bone marrow (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See TTC7A in Genome Data Viewer
Location:
2p21
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46915866..47076123)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46920640..47080920)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47143005..47303262)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1119 Neighboring gene uncharacterized LOC107985880 Neighboring gene Sharpr-MPRA regulatory region 12526 Neighboring gene uncharacterized LOC124906004 Neighboring gene Sharpr-MPRA regulatory region 4552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47100539-47101038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47105752-47106252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47106253-47106753 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47117443-47117627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47143015-47143989 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15716 Neighboring gene Sharpr-MPRA regulatory region 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47184163-47184662 Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47214570-47215070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47215071-47215571 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47229712-47229877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47231529-47232241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47233455-47234351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47247642-47248142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47252405-47252904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47272944-47273444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47273445-47273945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47276757-47277730 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47278786-47278992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47282739-47283687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47293527-47294085 Neighboring gene VISTA enhancer hs1967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47307103-47307880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47307881-47308656 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15722 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47402112-47402778 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47402802-47402952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15725 Neighboring gene calmodulin 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Gastrointestinal defects and immunodeficiency syndrome 1
MedGen: C5680044 OMIM: 243150 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of tetratricopeptide repeat domain 7A (TTC7A) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC131720, MGC134830

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
tetratricopeptide repeat protein 7A
Names
TPR repeat protein 7A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034143.2 RefSeqGene

    Range
    30096..164995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1323

mRNA and Protein(s)

  1. NM_001288951.2NP_001275880.1  tetratricopeptide repeat protein 7A isoform 1

    See identical proteins and their annotated locations for NP_001275880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC073283, AC093732
    Consensus CDS
    CCDS74511.1
    UniProtKB/TrEMBL
    B3KPK7
    Related
    ENSP00000378320.2, ENST00000394850.6
    Conserved Domains (4) summary
    sd00006
    Location:771797
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:771801
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:804867
    TPR_11; TPR repeat
    pfam13432
    Location:773832
    TPR_16; Tetratricopeptide repeat
  2. NM_001288953.2NP_001275882.1  tetratricopeptide repeat protein 7A isoform 3

    See identical proteins and their annotated locations for NP_001275882.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon structure and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC016722, AC073283, AC093732
    Consensus CDS
    CCDS74510.1
    UniProtKB/TrEMBL
    B3KPK7, G5E9G4
    Related
    ENSP00000386307.1, ENST00000409245.5
    Conserved Domains (4) summary
    sd00006
    Location:713739
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:713743
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:746809
    TPR_11; TPR repeat
    pfam13432
    Location:715774
    TPR_16; Tetratricopeptide repeat
  3. NM_001288955.2NP_001275884.1  tetratricopeptide repeat protein 7A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
    Source sequence(s)
    AC073283, AC093732
    UniProtKB/TrEMBL
    I6L9J2
    Conserved Domains (4) summary
    sd00006
    Location:393419
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:393423
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:426489
    TPR_11; TPR repeat
    pfam13432
    Location:395454
    TPR_16; Tetratricopeptide repeat
  4. NM_020458.4NP_065191.2  tetratricopeptide repeat protein 7A isoform 2

    See identical proteins and their annotated locations for NP_065191.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC073283, AC093732
    Consensus CDS
    CCDS33193.1
    UniProtKB/Swiss-Prot
    Q2T9J9, Q6PIX4, Q8ND67, Q9BUS3, Q9ULT0
    UniProtKB/TrEMBL
    B3KPK7
    Related
    ENSP00000316699.5, ENST00000319190.11
    Conserved Domains (4) summary
    sd00006
    Location:747773
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:747777
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:780843
    TPR_11; TPR repeat
    pfam13432
    Location:749808
    TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    46915866..47076123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445148.1XP_047301104.1  tetratricopeptide repeat protein 7A isoform X8

    UniProtKB/TrEMBL
    B3KPK7
  2. XM_017004524.2XP_016860013.1  tetratricopeptide repeat protein 7A isoform X1

    UniProtKB/TrEMBL
    B3KPK7
  3. XM_017004526.2XP_016860015.1  tetratricopeptide repeat protein 7A isoform X3

    UniProtKB/TrEMBL
    B3KPK7
  4. XM_047445146.1XP_047301102.1  tetratricopeptide repeat protein 7A isoform X5

    UniProtKB/TrEMBL
    B3KPK7
  5. XM_011532999.3XP_011531301.1  tetratricopeptide repeat protein 7A isoform X6

  6. XM_047445149.1XP_047301105.1  tetratricopeptide repeat protein 7A isoform X9

  7. XM_047445147.1XP_047301103.1  tetratricopeptide repeat protein 7A isoform X7

  8. XM_047445150.1XP_047301106.1  tetratricopeptide repeat protein 7A isoform X13

  9. XM_017004525.2XP_016860014.1  tetratricopeptide repeat protein 7A isoform X2

    UniProtKB/TrEMBL
    B3KPK7
  10. XM_047445145.1XP_047301101.1  tetratricopeptide repeat protein 7A isoform X4

    UniProtKB/TrEMBL
    Q6P0M3
  11. XM_011533000.4XP_011531302.1  tetratricopeptide repeat protein 7A isoform X10

    UniProtKB/TrEMBL
    Q6P0M3
    Related
    ENST00000491786.5
    Conserved Domains (4) summary
    sd00006
    Location:487513
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:487517
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:520583
    TPR_11; TPR repeat
    pfam13432
    Location:489548
    TPR_16; Tetratricopeptide repeat
  12. XM_024453013.2XP_024308781.1  tetratricopeptide repeat protein 7A isoform X11

    UniProtKB/TrEMBL
    I6L9J2
    Related
    ENST00000651415.1
    Conserved Domains (2) summary
    sd00006
    Location:402428
    TPR; TPR repeat [structural motif]
    cl26005
    Location:259510
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
  13. XM_011533001.4XP_011531303.1  tetratricopeptide repeat protein 7A isoform X12

    UniProtKB/TrEMBL
    I6L9J2
    Conserved Domains (4) summary
    sd00006
    Location:398424
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:398428
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:431494
    TPR_11; TPR repeat
    pfam13432
    Location:400459
    TPR_16; Tetratricopeptide repeat

RNA

  1. XR_007078570.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    46920640..47080920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343096.1XP_054199071.1  tetratricopeptide repeat protein 7A isoform X8

    UniProtKB/TrEMBL
    B3KPK7
  2. XM_054343089.1XP_054199064.1  tetratricopeptide repeat protein 7A isoform X1

    UniProtKB/TrEMBL
    B3KPK7
  3. XM_054343091.1XP_054199066.1  tetratricopeptide repeat protein 7A isoform X3

    UniProtKB/TrEMBL
    B3KPK7
  4. XM_054343093.1XP_054199068.1  tetratricopeptide repeat protein 7A isoform X5

    UniProtKB/TrEMBL
    B3KPK7
  5. XM_054343094.1XP_054199069.1  tetratricopeptide repeat protein 7A isoform X6

  6. XM_054343097.1XP_054199072.1  tetratricopeptide repeat protein 7A isoform X9

  7. XM_054343095.1XP_054199070.1  tetratricopeptide repeat protein 7A isoform X7

  8. XM_054343101.1XP_054199076.1  tetratricopeptide repeat protein 7A isoform X13

  9. XM_054343090.1XP_054199065.1  tetratricopeptide repeat protein 7A isoform X2

    UniProtKB/TrEMBL
    B3KPK7
  10. XM_054343092.1XP_054199067.1  tetratricopeptide repeat protein 7A isoform X4

    UniProtKB/TrEMBL
    Q6P0M3
  11. XM_054343098.1XP_054199073.1  tetratricopeptide repeat protein 7A isoform X10

    UniProtKB/TrEMBL
    Q6P0M3
  12. XM_054343099.1XP_054199074.1  tetratricopeptide repeat protein 7A isoform X11

    UniProtKB/TrEMBL
    I6L9J2
  13. XM_054343100.1XP_054199075.1  tetratricopeptide repeat protein 7A isoform X12

    UniProtKB/TrEMBL
    I6L9J2

RNA

  1. XR_008486460.1 RNA Sequence