U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [ Homo sapiens (human) ]

Gene ID: 85461, updated on 8-Jan-2023

Summary

Go to the top of the page Help
Official Symbol
TANC1provided by HGNC
Official Full Name
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1provided by HGNC
Primary source
HGNC:HGNC:29364
See related
Ensembl:ENSG00000115183 MIM:611397; AllianceGenome:HGNC:29364
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
TANC; ROLSB
Summary
Predicted to be involved in regulation of postsynapse organization. Predicted to act upstream of or within dendritic spine maintenance; myoblast fusion; and visual learning. Predicted to be located in several cellular components, including axon terminus; neuronal cell body; and postsynaptic density. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 16.4), lung (RPKM 9.9) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TANC1 in Genome Data Viewer
Location:
2q24.2
Exon count:
34
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158968640..159232659)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (159430678..159692453)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (159825152..160089170)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1477 Neighboring gene RNA, U2 small nuclear 21, pseudogene Neighboring gene VISTA enhancer hs2027 Neighboring gene basic transcription factor 3 like 4 pseudogene 2 Neighboring gene RNA, U6 small nuclear 580, pseudogene Neighboring gene glutathione S-transferase mu 3 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14439 Neighboring gene Sharpr-MPRA regulatory region 14614 Neighboring gene uncharacterized LOC105373716 Neighboring gene microRNA 6888 Neighboring gene WD repeat, sterile alpha motif and U-box domain containing 1 Neighboring gene bromodomain adjacent to zinc finger domain 2B Neighboring gene CAPZA1 pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. TANC1 methylation as a novel biomarker for the diagnosis of patients with anti-tuberculosis drug-induced liver injury. Wu D, et al. Sci Rep, 2021 Aug 31. PMID 34465797, Free PMC Article
  2. Purification and mutagenesis studies of TANC1 ankyrin repeats domain provide clues to understand mis-sense variants from diseases. Yang Q, et al. Biochem Biophys Res Commun, 2019 Jun 25. PMID 31040020
  3. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2). Granot-Hershkovitz E, et al. Am J Med Genet A, 2011 Aug. PMID 21739571
  4. A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1. Fachal L, et al. Nat Genet, 2014 Aug. PMID 24974847
  5. Drosophila and mammalian models uncover a role for the myoblast fusion gene TANC1 in rhabdomyosarcoma. Avirneni-Vadlamudi U, et al. J Clin Invest, 2012 Jan. PMID 22182840, Free PMC Article

See all (46) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TANC1 methylation as a novel biomarker for the diagnosis of patients with anti-tuberculosis drug-induced liver injury.
    Title: TANC1 methylation as a novel biomarker for the diagnosis of patients with anti-tuberculosis drug-induced liver injury.
  2. mis-sense variants tested in this study may either affect protein folding or disrupt the interaction between TANC1/2 AR domains and their binding partners
    Title: Purification and mutagenesis studies of TANC1 ankyrin repeats domain provide clues to understand mis-sense variants from diseases.
  3. Discusses cloning and expression of Rat TANC1 and preliminary cloning of human TANC1, which resulted in recovery of a partial cDNA.
    Title: A novel scaffold protein, TANC, possibly a rat homolog of Drosophila rolling pebbles (rols), forms a multiprotein complex with various postsynaptic density proteins.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.
EBI GWAS Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ13360, FLJ41166, KIAA1728

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 dendritic spine maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in myoblast fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynapse organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon terminus IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein TANC1
Names
TPR domain, ankyrin-repeat and coiled-coil-containing
rolling pebbles homolog B
tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001145909.2 → NP_001139381.1  protein TANC1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC009307, AC010093, AL833258, BC150597, DA226268
    UniProtKB/Swiss-Prot
    Q9C0D5
    UniProtKB/TrEMBL
    B9EK39
    Conserved Domains (5) summary
    PHA03095
    Location:898 → 1210
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:1254 → 1374
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:1284 → 1309
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1137 → 1167
    ANK; ANK repeat [structural motif]
    cl39094
    Location:1084 → 1260
    Ank_2; Ankyrin repeats (3 copies)

  2. NM_001350062.2 → NP_001336991.1  protein TANC1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes isoform 3.
    Source sequence(s)
    AC009307, AC010093
    Conserved Domains (4) summary
    COG0457
    Location:1061 → 1215
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:907 → 1030
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1091 → 1116
    TPR; TPR repeat [structural motif]
    sd00045
    Location:944 → 974
    ANK; ANK repeat [structural motif]

  3. NM_001350063.2 → NP_001336992.1  protein TANC1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes isoform 4.
    Source sequence(s)
    AC009307, AC010093
    Conserved Domains (4) summary
    COG0457
    Location:1139 → 1293
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:985 → 1108
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1169 → 1194
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1022 → 1052
    ANK; ANK repeat [structural motif]

  4. NM_001350064.2 → NP_001336993.1  protein TANC1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variant 6, encodes isoform 5.
    Source sequence(s)
    AC009307, AC010093
    Conserved Domains (4) summary
    COG0457
    Location:1255 → 1409
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:1101 → 1224
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1285 → 1310
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1138 → 1168
    ANK; ANK repeat [structural motif]

  5. NM_001350065.2 → NP_001336994.1  protein TANC1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variant 5, encodes isoform 5.
    Source sequence(s)
    AC009307, AC010093
    Conserved Domains (4) summary
    COG0457
    Location:1255 → 1409
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:1101 → 1224
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1285 → 1310
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1138 → 1168
    ANK; ANK repeat [structural motif]

  6. NM_033394.3 → NP_203752.2  protein TANC1 isoform 1

    See identical proteins and their annotated locations for NP_203752.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC009307, AK128859, AL833258, BC037329, BC150597, BX648327
    Consensus CDS
    CCDS42766.1
    UniProtKB/Swiss-Prot
    Q49AI8, Q9C0D5
    UniProtKB/TrEMBL
    B9EK39
    Related
    ENSP00000263635.6, ENST00000263635.8
    Conserved Domains (5) summary
    PHA03095
    Location:906 → 1218
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:1262 → 1416
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:1292 → 1317
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1145 → 1175
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:1116 → 1208
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. NR_146421.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010093

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    158968640..159232659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446107.1 → XP_047302063.1  protein TANC1 isoform X1

  2. XM_047446108.1 → XP_047302064.1  protein TANC1 isoform X4

  3. XM_047446125.1 → XP_047302081.1  protein TANC1 isoform X20

  4. XM_047446126.1 → XP_047302082.1  protein TANC1 isoform X22

  5. XM_017005141.2 → XP_016860630.2  protein TANC1 isoform X2

  6. XM_047446109.1 → XP_047302065.1  protein TANC1 isoform X5

  7. XM_017005152.2 → XP_016860641.2  protein TANC1 isoform X21

  8. XM_047446118.1 → XP_047302074.1  protein TANC1 isoform X14

  9. XM_047446120.1 → XP_047302076.1  protein TANC1 isoform X16

  10. XM_047446130.1 → XP_047302086.1  protein TANC1 isoform X26

  11. XM_047446111.1 → XP_047302067.1  protein TANC1 isoform X7

  12. XM_047446114.1 → XP_047302070.1  protein TANC1 isoform X9

  13. XM_047446127.1 → XP_047302083.1  protein TANC1 isoform X23

  14. XM_047446128.1 → XP_047302084.1  protein TANC1 isoform X24

  15. XM_047446112.1 → XP_047302068.1  protein TANC1 isoform X8

  16. XM_047446115.1 → XP_047302071.1  protein TANC1 isoform X10

  17. XM_006712814.4 → XP_006712877.1  protein TANC1 isoform X31

    Conserved Domains (8) summary
    cd00204
    Location:924 → 1047
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1108 → 1133
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:932 → 1024
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:201 → 243
    AAA_16; AAA ATPase domain
    pfam13414
    Location:1106 → 1183
    TPR_11; TPR repeat
    pfam13428
    Location:1187 → 1229
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:754 → 803
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:961 → 991
    ANK; ANK repeat [structural motif]

  18. XM_047446121.1 → XP_047302077.1  protein TANC1 isoform X17

  19. XM_011512053.3 → XP_011510355.1  protein TANC1 isoform X6

    See identical proteins and their annotated locations for XP_011510355.1

    Conserved Domains (8) summary
    cd00204
    Location:1126 → 1249
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1310 → 1335
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:1134 → 1226
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:403 → 445
    AAA_16; AAA ATPase domain
    pfam13414
    Location:1308 → 1385
    TPR_11; TPR repeat
    pfam13428
    Location:1389 → 1431
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:956 → 1005
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:1163 → 1193
    ANK; ANK repeat [structural motif]

  20. XM_006712810.4 → XP_006712873.1  protein TANC1 isoform X11

    See identical proteins and their annotated locations for XP_006712873.1

    UniProtKB/Swiss-Prot
    Q49AI8, Q9C0D5
    Conserved Domains (5) summary
    PHA03095
    Location:906 → 1218
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:1262 → 1416
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:1292 → 1317
    TPR; TPR repeat [structural motif]
    sd00045
    Location:1145 → 1175
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:1116 → 1208
    Ank_2; Ankyrin repeats (3 copies)

  21. XM_047446117.1 → XP_047302073.1  protein TANC1 isoform X13

  22. XM_047446124.1 → XP_047302080.1  protein TANC1 isoform X19

  23. XM_047446129.1 → XP_047302085.1  protein TANC1 isoform X25

  24. XM_047446116.1 → XP_047302072.1  protein TANC1 isoform X12

  25. XM_047446119.1 → XP_047302075.1  protein TANC1 isoform X15

  26. XM_047446131.1 → XP_047302087.1  protein TANC1 isoform X27

  27. XM_047446134.1 → XP_047302090.1  protein TANC1 isoform X29

  28. XM_047446122.1 → XP_047302078.1  protein TANC1 isoform X18

  29. XM_047446136.1 → XP_047302092.1  protein TANC1 isoform X32

  30. XM_047446110.1 → XP_047302066.1  protein TANC1 isoform X6

  31. XM_017005143.3 → XP_016860632.1  protein TANC1 isoform X3

  32. XM_047446132.1 → XP_047302088.1  protein TANC1 isoform X28

  33. XM_011512059.3 → XP_011510361.1  protein TANC1 isoform X30

    Conserved Domains (8) summary
    cd00204
    Location:944 → 1067
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00006
    Location:1128 → 1153
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:952 → 1044
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:221 → 263
    AAA_16; AAA ATPase domain
    pfam13414
    Location:1126 → 1203
    TPR_11; TPR repeat
    pfam13428
    Location:1207 → 1249
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:774 → 823
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:981 → 1011
    ANK; ANK repeat [structural motif]

  34. XM_047446135.1 → XP_047302091.1  protein TANC1 isoform X30

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    159430678..159692453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0D5.3 GenPept UniProtKB/Swiss-Prot:Q9C0D5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous