TTC7B tetratricopeptide repeat domain 7B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTC7Bprovided by HGNC
Official Full Name: tetratricopeptide repeat domain 7Bprovided by HGNC
Primary source: HGNC:HGNC:19858
See related: Ensembl:ENSG00000165914 MIM:620060; AllianceGenome:HGNC:19858
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TTC7L1; c14_5685
Summary: Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.11

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (90524564..90816430, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (84749718..85042042, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (90990908..91282774, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
Title: TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Title: 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility
Title: TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide and gene-based association studies of anxiety disorders in European and african american samples. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153355 (e-PCR)
- UniSTS:177696

D14S1261 (e-PCR)
- UniSTS:16929

FB20F6 (e-PCR)
- UniSTS:4922

RH103056 (e-PCR)
- UniSTS:97390

RH66997 (e-PCR)
- UniSTS:85648

1088 (e-PCR)
- UniSTS:56480

D14S291 (e-PCR), detects polymorphism
- UniSTS:8865

SHGC-107542 (e-PCR)
- UniSTS:170415

G32318 (e-PCR)
- UniSTS:116911

D14S291 (e-PCR), detects polymorphism
- UniSTS:51893

SHGC-83079 (e-PCR)
- UniSTS:101307

G35691 (e-PCR)
- UniSTS:46783

D14S148 (e-PCR)
- UniSTS:148420

D14S100E (e-PCR)
- UniSTS:66506

G35974 (e-PCR)
- UniSTS:40665

RH47639 (e-PCR)
- UniSTS:75748

D14S1242 (e-PCR)
- UniSTS:3822

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 phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
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 cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tetratricopeptide repeat protein 7B

Names: TPR repeat protein 7-like-1; TPR repeat protein 7B; tetratricopeptide repeat domain 7 like 1; tetratricopeptide repeat protein 7-like-1

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.

mRNA and Protein(s)

NM_001010854.2 → NP_001010854.1 tetratricopeptide repeat protein 7B isoform 1

See identical proteins and their annotated locations for NP_001010854.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL096869, AL122020, BC035865, BG489583, BQ426031, BX248275, CB988671

Consensus CDS

CCDS32140.1

UniProtKB/Swiss-Prot

Q86TV6, Q86U24, Q86VT3

Related

ENSP00000336127.4, ENST00000328459.11

Conserved Domains (5) summary

COG0457
Location:365 → 619

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00008
Location:431 → 459

TPR_YbbN; TPR repeat [structural motif]

sd00006
Location:730 → 758

TPR; TPR repeat [structural motif]

pfam07719
Location:732 → 763

TPR_2; Tetratricopeptide repeat

pfam13414
Location:732 → 794

TPR_11; TPR repeat
NM_001320421.2 → NP_001307350.1 tetratricopeptide repeat protein 7B isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and contains an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and contains an alternate segment in the C-terminus compared to isoform 1.

Source sequence(s)

AL096869, AL122020, AL139193, AL832848, AW081996, BX247966, DR001028

UniProtKB/Swiss-Prot

Q86TV6

Conserved Domains (4) summary

sd00008
Location:329 → 357

TPR_YbbN; TPR repeat [structural motif]

sd00006
Location:645 → 673

TPR; TPR repeat [structural motif]

pfam07719
Location:647 → 678

TPR_2; Tetratricopeptide repeat

pfam13414
Location:647 → 709

TPR_11; TPR repeat
NM_001401365.1 → NP_001388294.1 tetratricopeptide repeat protein 7B isoform 3

Status: VALIDATED

Source sequence(s)

AL096869, AL122020, AL139193