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CCDC136 coiled-coil domain containing 136 [ Homo sapiens (human) ]

Gene ID: 64753, updated on 13-Mar-2020

Summary

Official Symbol
CCDC136provided by HGNC
Official Full Name
coiled-coil domain containing 136provided by HGNC
Primary source
HGNC:HGNC:22225
See related
Ensembl:ENSG00000128596 MIM:611902
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
NAG6
Expression
Restricted expression toward testis (RPKM 72.9) See more
Orthologs

Genomic context

See CCDC136 in Genome Data Viewer
Location:
7q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (128790762..128822130)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128431464..128462187)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene blue cone (S) opsin upstream regulatory region Neighboring gene opsin 1, short wave sensitive Neighboring gene tRNA-Pro (anticodon AGG) 2-3 Neighboring gene uncharacterized LOC107986846 Neighboring gene filamin C Neighboring gene FLNC antisense RNA 1 Neighboring gene ATPase H+ transporting V1 subunit F

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129657, MGC176632, DKFZp434G156

Gene Ontology Provided by GOA

Process Evidence Code Pubs
acrosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
acrosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 136
Names
nasopharyngeal carcinoma-associated gene 6 protein

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.

mRNA and Protein(s)

  1. NM_001201372.2NP_001188301.1  coiled-coil domain-containing protein 136 isoform 2

    See identical proteins and their annotated locations for NP_001188301.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region, uses an upstream start codon, and lacks nine exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI611323, AK124447, DR003042
    Consensus CDS
    CCDS56510.1
    UniProtKB/Swiss-Prot
    Q96JN2
    Related
    ENSP00000367956.4, ENST00000378685.8
    Conserved Domains (3) summary
    pfam07106
    Location:144243
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
    pfam15619
    Location:110292
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl21455
    Location:314390
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001363423.2NP_001350352.1  coiled-coil domain-containing protein 136 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK023500, AK124447, AL042602, DA511054, DB050791, DB078673, DR003042
    Conserved Domains (2) summary
    cl25732
    Location:84451
    SMC_N; RecF/RecN/SMC N terminal domain
    cl28204
    Location:509792
    GlgA; Glycogen synthase [Carbohydrate transport and metabolism]
  3. NM_001363424.2NP_001350353.1  coiled-coil domain-containing protein 136 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AK023500, AK124447, DA511054, DB050791, DR003042
    Conserved Domains (2) summary
    cl25732
    Location:103394
    SMC_N; RecF/RecN/SMC N terminal domain
    cl28204
    Location:497780
    GlgA; Glycogen synthase [Carbohydrate transport and metabolism]
  4. NM_001367761.1NP_001354690.1  coiled-coil domain-containing protein 136 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
    Related
    ENSP00000419515.1, ENST00000464832.5
  5. NM_001367762.1NP_001354691.1  coiled-coil domain-containing protein 136 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
  6. NM_001367763.1NP_001354692.1  coiled-coil domain-containing protein 136 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
  7. NM_001367764.1NP_001354693.1  coiled-coil domain-containing protein 136 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
    Related
    ENSP00000417931.1, ENST00000494552.5
  8. NM_001367765.1NP_001354694.1  coiled-coil domain-containing protein 136 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
    Related
    ENSP00000420509.1, ENST00000487361.5
  9. NM_001367766.1NP_001354695.1  coiled-coil domain-containing protein 136 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC024952, AC025594
  10. NM_022742.5NP_073579.5  coiled-coil domain-containing protein 136 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC024952, AC025594
    Consensus CDS
    CCDS47704.1
    Related
    ENSP00000297788.4, ENST00000297788.9
    Conserved Domains (1) summary
    cl25732
    Location:34401
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    128790762..128822130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446874.1XP_024302642.1  coiled-coil domain-containing protein 136 isoform X10

    Conserved Domains (1) summary
    cl25732
    Location:34401
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011516483.1XP_011514785.1  coiled-coil domain-containing protein 136 isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:2751044
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_011516484.1XP_011514786.1  coiled-coil domain-containing protein 136 isoform X2

    Conserved Domains (2) summary
    TIGR02168
    Location:2751044
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  4. XM_011516489.1XP_011514791.1  coiled-coil domain-containing protein 136 isoform X12

    Conserved Domains (1) summary
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  5. XM_011516485.1XP_011514787.1  coiled-coil domain-containing protein 136 isoform X3

    Conserved Domains (2) summary
    TIGR02168
    Location:2751043
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  6. XM_024446872.1XP_024302640.1  coiled-coil domain-containing protein 136 isoform X6

    Conserved Domains (1) summary
    cl25732
    Location:84451
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_011516486.1XP_011514788.1  coiled-coil domain-containing protein 136 isoform X4

    Conserved Domains (3) summary
    TIGR02168
    Location:2631032
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam17045
    Location:138389
    CEP63; Centrosomal protein of 63 kDa
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  8. XM_017012532.1XP_016868021.1  coiled-coil domain-containing protein 136 isoform X8

  9. XM_011516488.2XP_011514790.1  coiled-coil domain-containing protein 136 isoform X9

    Conserved Domains (2) summary
    TIGR02168
    Location:2751044
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  10. XM_011516487.2XP_011514789.1  coiled-coil domain-containing protein 136 isoform X7

    Conserved Domains (2) summary
    TIGR02168
    Location:2751044
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  11. XM_011516490.2XP_011514792.1  coiled-coil domain-containing protein 136 isoform X15

    Conserved Domains (1) summary
    cl23720
    Location:105194
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  12. XM_024446873.1XP_024302641.1  coiled-coil domain-containing protein 136 isoform X10

    Conserved Domains (1) summary
    cl25732
    Location:34401
    SMC_N; RecF/RecN/SMC N terminal domain
  13. XM_017012533.1XP_016868022.1  coiled-coil domain-containing protein 136 isoform X11

    UniProtKB/Swiss-Prot
    Q96JN2
  14. XM_024446875.1XP_024302643.1  coiled-coil domain-containing protein 136 isoform X16

    Conserved Domains (1) summary
    cl25732
    Location:314438
    SMC_N; RecF/RecN/SMC N terminal domain
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