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FAM122C family with sequence similarity 122C [ Homo sapiens (human) ]

Gene ID: 159091, updated on 12-Oct-2019

Summary

Official Symbol
FAM122Cprovided by HGNC
Official Full Name
family with sequence similarity 122Cprovided by HGNC
Primary source
HGNC:HGNC:25202
See related
Ensembl:ENSG00000156500
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
Expression
Ubiquitous expression in testis (RPKM 1.5), ovary (RPKM 1.4) and 24 other tissues See more
Orthologs

Genomic context

See FAM122C in Genome Data Viewer
Location:
Xq26.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (134796395..134855137)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133930443..133989149)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene placenta enriched 1 Neighboring gene ribosomal protein S7 pseudogene 12 Neighboring gene RNA, U4 small nuclear 44, pseudogene Neighboring gene family with sequence similarity 122B Neighboring gene motile sperm domain containing 1 Neighboring gene RNA, U6 small nuclear 616, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

NCBI Reference Sequences (RefSeq)

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_016383.1 RefSeqGene

    Range
    15825..63199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170779.3NP_001164250.1  protein FAM122C isoform 1

    See identical proteins and their annotated locations for NP_001164250.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS55501.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    Related
    ENSP00000359820.4, ENST00000370784.8
  2. NM_001170780.1NP_001164251.1  protein FAM122C isoform 3

    See identical proteins and their annotated locations for NP_001164251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR, the 3' UTR, and the coding region, one of which results in frameshift. These differences also result in translation from an alternate start codon. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AK307219, BC016784
    Consensus CDS
    CCDS55500.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    Related
    ENSP00000402477.2, ENST00000414371.6
  3. NM_001170781.2NP_001164252.1  protein FAM122C isoform 4

    See identical proteins and their annotated locations for NP_001164252.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS87777.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    UniProtKB/TrEMBL
    B3KQY3
    Related
    ENSP00000495200.1, ENST00000475361.1
  4. NM_001170782.2NP_001164253.1  protein FAM122C isoform 5

    See identical proteins and their annotated locations for NP_001164253.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL691477
    UniProtKB/TrEMBL
    Q6P187
  5. NM_001170783.2NP_001164254.1  protein FAM122C isoform 6

    See identical proteins and their annotated locations for NP_001164254.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS76028.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    UniProtKB/TrEMBL
    A0A087WU98
  6. NM_001170784.2NP_001164255.1  protein FAM122C isoform 6

    See identical proteins and their annotated locations for NP_001164255.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS76028.1
    UniProtKB/TrEMBL
    A0A087WU98
    Related
    ENSP00000485120.1, ENST00000623326.4
  7. NM_001365743.1NP_001352672.1  protein FAM122C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Related
    ENSP00000493993.1, ENST00000645288.1
  8. NM_001365744.1NP_001352673.1  protein FAM122C isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
  9. NM_001365745.1NP_001352674.1  protein FAM122C isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Related
    ENSP00000493672.1, ENST00000646004.1
    Conserved Domains (1) summary
    cl00184
    Location:24112
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
  10. NM_001365746.1NP_001352675.1  protein FAM122C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Related
    ENSP00000495775.1, ENST00000482240.5
  11. NM_001365747.1NP_001352676.1  protein FAM122C isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Related
    ENSP00000496039.1, ENST00000644752.1
  12. NM_001365748.1NP_001352677.1  protein FAM122C isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Related
    ENSP00000495073.1, ENST00000643150.1
  13. NM_138819.4NP_620174.1  protein FAM122C isoform 2

    See identical proteins and their annotated locations for NP_620174.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS14644.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    Related
    ENSP00000359821.3, ENST00000370785.4

RNA

  1. NR_158603.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Related
    ENST00000463842.2
  2. NR_158606.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK295485, BC063491, Z83826

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    134796395..134855137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531296.2XP_011529598.1  protein FAM122C isoform X3

  2. XM_011531297.2XP_011529599.1  protein FAM122C isoform X6

  3. XM_024452343.1XP_024308111.1  protein FAM122C isoform X7

  4. XM_005262384.4XP_005262441.1  protein FAM122C isoform X10

  5. XM_005262386.3XP_005262443.1  protein FAM122C isoform X12

  6. XM_005262382.1XP_005262439.1  protein FAM122C isoform X1

    See identical proteins and their annotated locations for XP_005262439.1

    UniProtKB/TrEMBL
    D3DTG4
  7. XM_011531295.1XP_011529597.1  protein FAM122C isoform X2

  8. XM_006724735.1XP_006724798.1  protein FAM122C isoform X5

  9. XM_005262383.2XP_005262440.1  protein FAM122C isoform X8

  10. XM_011531298.3XP_011529600.1  protein FAM122C isoform X9

  11. XM_017029308.1XP_016884797.1  protein FAM122C isoform X9

  12. XM_011531306.2XP_011529608.1  protein FAM122C isoform X17

  13. XM_011531305.2XP_011529607.1  protein FAM122C isoform X15

  14. XM_006724734.4XP_006724797.1  protein FAM122C isoform X4

    Related
    ENSP00000496338.1, ENST00000645433.1
  15. XM_011531302.2XP_011529604.1  protein FAM122C isoform X11

    See identical proteins and their annotated locations for XP_011529604.1

    UniProtKB/TrEMBL
    B4DI96
  16. XM_017029309.1XP_016884798.1  protein FAM122C isoform X13

  17. XM_011531299.1XP_011529601.1  protein FAM122C isoform X11

    See identical proteins and their annotated locations for XP_011529601.1

    UniProtKB/TrEMBL
    B4DI96
  18. XM_011531301.2XP_011529603.1  protein FAM122C isoform X11

    See identical proteins and their annotated locations for XP_011529603.1

    UniProtKB/TrEMBL
    B4DI96
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