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

Gene ID: 85461, updated on 5-Mar-2024

Summary

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
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Genomic context

Location:
2q24.2
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158968640..159232659)
RS_2023_10 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 Neanderthal introgressed variant-containing enhancer experimental_53476 Neighboring gene tRNA-Glu (anticodon CTC) 7-1 Neighboring gene VISTA enhancer hs1477 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53495 Neighboring gene NANOG hESC enhancer GRCh37_chr2:159819504-159820084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12041 Neighboring gene RNA, U2 small nuclear 21, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16681 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:159851555-159852212 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 NANOG-H3K27ac hESC enhancer GRCh37_chr2:159920830-159921358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16682 Neighboring gene glutathione S-transferase mu 3 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980099-159980612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980613-159981124 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53540 Neighboring gene Sharpr-MPRA regulatory region 14614 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16684 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:160067858-160068472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160081586-160082095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160082096-160082604 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53624 Neighboring gene uncharacterized LOC105373716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53635 Neighboring gene microRNA 6888 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53665 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:160113609-160113777 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160128197-160128698 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:160128699-160129198 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53748 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:160143174-160143343 Neighboring gene WD repeat, sterile alpha motif and U-box domain containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:160205700-160206899 Neighboring gene bromodomain adjacent to zinc finger domain 2B Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:160294250-160295449 Neighboring gene CAPZA1 pseudogene 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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

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)

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_001145909.2NP_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/TrEMBL
    B9EK39
    Conserved Domains (5) summary
    PHA03095
    Location:8981210
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:12541374
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:12841309
    TPR; TPR repeat [structural motif]
    sd00045
    Location:11371167
    ANK; ANK repeat [structural motif]
    cl39094
    Location:10841260
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001350062.2NP_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:10611215
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:9071030
    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:10911116
    TPR; TPR repeat [structural motif]
    sd00045
    Location:944974
    ANK; ANK repeat [structural motif]
  3. NM_001350063.2NP_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:11391293
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:9851108
    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:11691194
    TPR; TPR repeat [structural motif]
    sd00045
    Location:10221052
    ANK; ANK repeat [structural motif]
  4. NM_001350064.2NP_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:12551409
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:11011224
    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:12851310
    TPR; TPR repeat [structural motif]
    sd00045
    Location:11381168
    ANK; ANK repeat [structural motif]
  5. NM_001350065.2NP_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:12551409
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:11011224
    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:12851310
    TPR; TPR repeat [structural motif]
    sd00045
    Location:11381168
    ANK; ANK repeat [structural motif]
  6. NM_033394.3NP_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
    C9JD88, Q49AI8, Q9C0D5
    Related
    ENSP00000263635.6, ENST00000263635.8
    Conserved Domains (5) summary
    PHA03095
    Location:9061218
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:12621416
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:12921317
    TPR; TPR repeat [structural motif]
    sd00045
    Location:11451175
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11161208
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. NR_146421.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010093

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047446107.1XP_047302063.1  protein TANC1 isoform X1

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Conserved Domains (8) summary
    cd00204
    Location:9241047
    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:11081133
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:9321024
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:201243
    AAA_16; AAA ATPase domain
    pfam13414
    Location:11061183
    TPR_11; TPR repeat
    pfam13428
    Location:11871229
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:754803
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:961991
    ANK; ANK repeat [structural motif]
  18. XM_047446121.1XP_047302077.1  protein TANC1 isoform X17

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

    See identical proteins and their annotated locations for XP_011510355.1

    Conserved Domains (8) summary
    cd00204
    Location:11261249
    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:13101335
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:11341226
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:403445
    AAA_16; AAA ATPase domain
    pfam13414
    Location:13081385
    TPR_11; TPR repeat
    pfam13428
    Location:13891431
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:9561005
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:11631193
    ANK; ANK repeat [structural motif]
  20. XM_006712810.4XP_006712873.1  protein TANC1 isoform X11

    See identical proteins and their annotated locations for XP_006712873.1

    UniProtKB/Swiss-Prot
    C9JD88, Q49AI8, Q9C0D5
    Conserved Domains (5) summary
    PHA03095
    Location:9061218
    PHA03095; ankyrin-like protein; Provisional
    COG0457
    Location:12621416
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:12921317
    TPR; TPR repeat [structural motif]
    sd00045
    Location:11451175
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11161208
    Ank_2; Ankyrin repeats (3 copies)
  21. XM_047446117.1XP_047302073.1  protein TANC1 isoform X13

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

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

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

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

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

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

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

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

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

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

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

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

    Conserved Domains (8) summary
    cd00204
    Location:9441067
    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:11281153
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:9521044
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:221263
    AAA_16; AAA ATPase domain
    pfam13414
    Location:11261203
    TPR_11; TPR repeat
    pfam13428
    Location:12071249
    TPR_14; Tetratricopeptide repeat
    pfam13637
    Location:774823
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:9811011
    ANK; ANK repeat [structural motif]
  34. XM_047446135.1XP_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)

mRNA and Protein(s)

  1. XM_054344267.1XP_054200242.1  protein TANC1 isoform X1

  2. XM_054344270.1XP_054200245.1  protein TANC1 isoform X4

  3. XM_054344287.1XP_054200262.1  protein TANC1 isoform X20

  4. XM_054344289.1XP_054200264.1  protein TANC1 isoform X22

  5. XM_054344268.1XP_054200243.1  protein TANC1 isoform X2

  6. XM_054344271.1XP_054200246.1  protein TANC1 isoform X5

  7. XM_054344288.1XP_054200263.1  protein TANC1 isoform X21

  8. XM_054344281.1XP_054200256.1  protein TANC1 isoform X14

  9. XM_054344283.1XP_054200258.1  protein TANC1 isoform X16

  10. XM_054344293.1XP_054200268.1  protein TANC1 isoform X26

  11. XM_054344274.1XP_054200249.1  protein TANC1 isoform X7

  12. XM_054344276.1XP_054200251.1  protein TANC1 isoform X9

  13. XM_054344290.1XP_054200265.1  protein TANC1 isoform X23

  14. XM_054344291.1XP_054200266.1  protein TANC1 isoform X24

  15. XM_054344275.1XP_054200250.1  protein TANC1 isoform X8

  16. XM_054344277.1XP_054200252.1  protein TANC1 isoform X10

  17. XM_054344298.1XP_054200273.1  protein TANC1 isoform X31

  18. XM_054344284.1XP_054200259.1  protein TANC1 isoform X17

  19. XM_054344273.1XP_054200248.1  protein TANC1 isoform X6

  20. XM_054344278.1XP_054200253.1  protein TANC1 isoform X11

  21. XM_054344280.1XP_054200255.1  protein TANC1 isoform X13

  22. XM_054344286.1XP_054200261.1  protein TANC1 isoform X19

  23. XM_054344292.1XP_054200267.1  protein TANC1 isoform X25

  24. XM_054344279.1XP_054200254.1  protein TANC1 isoform X12

  25. XM_054344282.1XP_054200257.1  protein TANC1 isoform X15

  26. XM_054344294.1XP_054200269.1  protein TANC1 isoform X27

  27. XM_054344296.1XP_054200271.1  protein TANC1 isoform X29

  28. XM_054344285.1XP_054200260.1  protein TANC1 isoform X18

  29. XM_054344300.1XP_054200275.1  protein TANC1 isoform X32

  30. XM_054344272.1XP_054200247.1  protein TANC1 isoform X6

  31. XM_054344269.1XP_054200244.1  protein TANC1 isoform X3

  32. XM_054344295.1XP_054200270.1  protein TANC1 isoform X28

  33. XM_054344297.1XP_054200272.1  protein TANC1 isoform X30

  34. XM_054344299.1XP_054200274.1  protein TANC1 isoform X33