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TTYH1 tweety family member 1 [ Homo sapiens (human) ]

Gene ID: 57348, updated on 6-Sep-2021

Summary

Official Symbol
TTYH1provided by HGNC
Official Full Name
tweety family member 1provided by HGNC
Primary source
HGNC:HGNC:13476
See related
Ensembl:ENSG00000167614 MIM:605784
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
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
Expression
Biased expression in brain (RPKM 71.7) and testis (RPKM 20.0) See more
Orthologs
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Genomic context

See TTYH1 in Genome Data Viewer
Location:
19q13.42
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54415464..54436904)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54926638..54948084)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin like receptor A4 Neighboring gene leukocyte associated immunoglobulin like receptor 1 Neighboring gene Sharpr-MPRA regulatory region 3780 Neighboring gene LENG8 antisense RNA 1 Neighboring gene leukocyte receptor cluster member 8 Neighboring gene leukocyte receptor cluster member 9

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
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity TAS
Traceable Author Statement
more info
 
enables intracellular calcium activated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables iron ion transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables volume-sensitive chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables volume-sensitive chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in iron ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in smooth endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein tweety homolog 1
Names
hTTY1
tweety homolog 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)

  1. NM_001005367.3NP_001005367.1  protein tweety homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_001005367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as hTTYH1s, encodes the longest isoform (2).
    Source sequence(s)
    AB188496, AC245884, AF177909, AK289468, BU737336
    Consensus CDS
    CCDS33106.1
    UniProtKB/Swiss-Prot
    Q9H313
    Related
    ENSP00000365714.3, ENST00000376531.3
    Conserved Domains (1) summary
    cd07912
    Location:6425
    Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
  2. NM_001201461.2NP_001188390.1  protein tweety homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001188390.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon and contains an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AB188496, AC245884, BU737336
    Consensus CDS
    CCDS56102.1
    UniProtKB/Swiss-Prot
    Q9H313
    Related
    ENSP00000301194.4, ENST00000301194.8
    Conserved Domains (1) summary
    cd07912
    Location:6422
    Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
  3. NM_020659.4NP_065710.1  protein tweety homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_065710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AB188496, AC245884, AF177909, BU737336
    Consensus CDS
    CCDS12893.1
    UniProtKB/Swiss-Prot
    Q9H313
    Related
    ENSP00000365713.3, ENST00000376530.8
    Conserved Domains (1) summary
    cd07912
    Location:6422
    Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54415464..54436904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    321982..343428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    320158..341592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    397752..419198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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