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

    Gene ID: 85461, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 16.4), lung (RPKM 9.9) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TANC1 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158968640..159232659)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (159430678..159692453)
    RS_2024_09 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_2024_08

    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