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TCTN1 tectonic family member 1 [ Homo sapiens (human) ]

Gene ID: 79600, updated on 8-Jul-2021

Summary

Official Symbol
TCTN1provided by HGNC
Official Full Name
tectonic family member 1provided by HGNC
Primary source
HGNC:HGNC:26113
See related
Ensembl:ENSG00000204852 MIM:609863
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
TECT1; JBTS13
Summary
This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Broad expression in testis (RPKM 9.1), thyroid (RPKM 8.9) and 25 other tissues See more
Orthologs
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Genomic context

See TCTN1 in Genome Data Viewer
Location:
12q24.11
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110614068..110649430)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111051934..111087235)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene VPS29 retromer complex component Neighboring gene RAD9 checkpoint clamp component B Neighboring gene protein phosphatase targeting COQ7 Neighboring gene HNF4 motif-containing MPRA enhancer 250 Neighboring gene RNA, 7SL, cytoplasmic 387, pseudogene Neighboring gene hydrogen voltage gated channel 1 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21127

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in central nervous system interneuron axonogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in neural tube formation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in somatic motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in telencephalon development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

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_030381.1 RefSeqGene

    Range
    5103..40404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001082537.3NP_001076006.1  tectonic-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001076006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC144522, AK295514, BC062611, CA419765
    Consensus CDS
    CCDS41835.1
    UniProtKB/Swiss-Prot
    Q2MV58
    UniProtKB/TrEMBL
    B4DIB9
    Related
    ENSP00000448735.1, ENST00000551590.5
    Conserved Domains (1) summary
    pfam07773
    Location:78387
    DUF1619; Protein of unknown function (DUF1619)
  2. NM_001082538.3NP_001076007.1  tectonic-1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC144522, AK295514, AY358184, CA419765
    Consensus CDS
    CCDS41834.1
    UniProtKB/Swiss-Prot
    Q2MV58
    UniProtKB/TrEMBL
    B4DIB9
    Related
    ENSP00000380779.4, ENST00000397659.9
    Conserved Domains (1) summary
    pfam07773
    Location:78387
    DUF1619; Protein of unknown function (DUF1619)
  3. NM_001173975.3NP_001167446.1  tectonic-1 isoform 4

    See identical proteins and their annotated locations for NP_001167446.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, initiates translation at an alternate start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK092775, AK295514, CA419765
    UniProtKB/Swiss-Prot
    Q2MV58
    UniProtKB/TrEMBL
    B4DIB9
    Conserved Domains (1) summary
    pfam07773
    Location:22331
    DUF1619; Protein of unknown function (DUF1619)
  4. NM_001173976.2NP_001167447.1  tectonic-1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes an alternate exon in the 5' region, initiates translation at an alternate start codon, and lacks an in-frame exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK024780, AK055891, CA419765
    UniProtKB/Swiss-Prot
    Q2MV58
    UniProtKB/TrEMBL
    B4DIB9
    Conserved Domains (1) summary
    pfam07773
    Location:18327
    DUF1619; Protein of unknown function (DUF1619)
  5. NM_001319680.2NP_001306609.1  tectonic-1 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon and uses two alternate in-frame splice sites in the 3' coding region compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC002350, AC144522
    Related
    ENSP00000484255.2, ENST00000614115.5
    Conserved Domains (1) summary
    pfam07773
    Location:78387
    DUF1619; Protein of unknown function (DUF1619)
  6. NM_001319681.2NP_001306610.1  tectonic-1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate exon in the 5' region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (7) has a shorter N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK295514, AK301732, CA419765
    UniProtKB/TrEMBL
    A8MW34, B4DIB9
    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  7. NM_001319682.3NP_001306611.1  tectonic-1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in the 5' region, initiates translation at an alternate start codon, lacks multiple 3' coding exons, and contains an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (8) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK295514, BC033811
    UniProtKB/TrEMBL
    B4DIB9, Q05BR9
    Conserved Domains (1) summary
    pfam07773
    Location:22153
    DUF1619; Protein of unknown function (DUF1619)
  8. NM_024549.6NP_078825.2  tectonic-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_078825.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains an alternate in-frame exon in the central coding region and an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC144522, AK295514, BC040113, CA419765
    Consensus CDS
    CCDS41833.1
    UniProtKB/Swiss-Prot
    Q2MV58
    UniProtKB/TrEMBL
    B4DIB9
    Related
    ENSP00000380775.3, ENST00000397655.7
    Conserved Domains (1) summary
    pfam07773
    Location:78373
    DUF1619; Protein of unknown function (DUF1619)

RNA

  1. NR_135088.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 5' terminal exon, contains an alternate exon in the 5' region, and lacks two exons and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC144522, AK295514, BC044885, CA419765
    Related
    ENST00000464809.5

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110614068..110649430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719600.3XP_006719663.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719663.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  2. XM_006719596.3XP_006719659.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719659.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  3. XM_006719598.3XP_006719661.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719661.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  4. XM_011538734.3XP_011537036.1  tectonic-1 isoform X2

    Conserved Domains (1) summary
    pfam07773
    Location:89367
    DUF1619; Protein of unknown function (DUF1619)
  5. XM_006719595.3XP_006719658.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719658.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  6. XM_006719597.4XP_006719660.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719660.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  7. XM_006719594.3XP_006719657.1  tectonic-1 isoform X4

    Conserved Domains (1) summary
    pfam07773
    Location:22331
    DUF1619; Protein of unknown function (DUF1619)
  8. XM_017019964.1XP_016875453.1  tectonic-1 isoform X6

  9. XM_017019969.2XP_016875458.1  tectonic-1 isoform X11

  10. XM_006719599.3XP_006719662.1  tectonic-1 isoform X10

    See identical proteins and their annotated locations for XP_006719662.1

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  11. XM_011538733.3XP_011537035.1  tectonic-1 isoform X1

    Conserved Domains (1) summary
    pfam07773
    Location:78373
    DUF1619; Protein of unknown function (DUF1619)
  12. XM_011538735.2XP_011537037.1  tectonic-1 isoform X3

    Conserved Domains (1) summary
    pfam07773
    Location:78387
    DUF1619; Protein of unknown function (DUF1619)
  13. XM_011538737.3XP_011537039.1  tectonic-1 isoform X5

    Related
    ENSP00000366882.5, ENST00000377654.5
    Conserved Domains (1) summary
    pfam07773
    Location:78379
    DUF1619; Protein of unknown function (DUF1619)
  14. XM_011538738.3XP_011537040.1  tectonic-1 isoform X7

    Conserved Domains (1) summary
    pfam07773
    Location:78326
    DUF1619; Protein of unknown function (DUF1619)
  15. XM_005253934.4XP_005253991.1  tectonic-1 isoform X8

    Conserved Domains (1) summary
    pfam07773
    Location:78326
    DUF1619; Protein of unknown function (DUF1619)
  16. XM_005253935.4XP_005253992.1  tectonic-1 isoform X9

    Related
    ENSP00000450154.2, ENST00000549123.6
    Conserved Domains (1) summary
    pfam07773
    Location:78362
    DUF1619; Protein of unknown function (DUF1619)
  17. XM_017019966.2XP_016875455.1  tectonic-1 isoform X10

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)
  18. XM_017019968.2XP_016875457.1  tectonic-1 isoform X10

    Conserved Domains (1) summary
    pfam07773
    Location:1209
    DUF1619; Protein of unknown function (DUF1619)

RNA

  1. XR_944717.3 RNA Sequence

    Related
    ENST00000495659.6
  2. XR_429116.3 RNA Sequence

    Related
    ENST00000490514.5
  3. XR_243021.4 RNA Sequence

    Related
    ENST00000680068.1
  4. XR_243022.4 RNA Sequence

    Related
    ENST00000547461.3
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