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Entry version 117 (08 May 2019)
Sequence version 3 (18 May 2010)
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Protein

Coiled-coil domain-containing protein 136

Gene

CCDC136

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May play a role in acrosome formation in spermatogenesis and in fertilization.By similarity

Miscellaneous

Restriction fragment length polymorphisms (RFLPs) in gastric cancer showed loss of 5 kb fragment in comparison with the corresponding normal tissue.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, Fertilization, Spermatogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil domain-containing protein 136
Alternative name(s):
Nasopharyngeal carcinoma-associated gene 6 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCDC136
Synonyms:KIAA1793
ORF Names:NAG6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:22225 CCDC136

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611902 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96JN2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1130 – 1150HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
64753

Open Targets

More...
OpenTargetsi
ENSG00000128596

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162381381

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC136

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439415

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003006391 – 1154Coiled-coil domain-containing protein 136Add BLAST1154

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei52PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96JN2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96JN2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96JN2

PeptideAtlas

More...
PeptideAtlasi
Q96JN2

PRoteomics IDEntifications database

More...
PRIDEi
Q96JN2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
76991
76992 [Q96JN2-2]
76993 [Q96JN2-3]
76994 [Q96JN2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96JN2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96JN2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in gastric tissues. Down-regulated in gastric cancer.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000128596 Expressed in 165 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96JN2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96JN2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010647
HPA071015

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q9H6F03EBI-10171416,EBI-10307481
ABT1Q9ULW33EBI-10171416,EBI-2602396
AQP1P299723EBI-10171416,EBI-745213
ASB7Q9H6723EBI-10171416,EBI-3916346
ATP5POP480473EBI-10171416,EBI-355815
BARD1A0AVN23EBI-10171416,EBI-9977322
BLOC1S6Q9UL453EBI-10171416,EBI-465781
BYSLQ138955EBI-10171416,EBI-358049
C1orf216Q8TAB53EBI-10171416,EBI-747505
CBX8Q9HC523EBI-10171416,EBI-712912
CCDC146Q8IYE0-23EBI-10171416,EBI-10247802
CCHCR1Q8TD31-33EBI-10171416,EBI-10175300
CDK2AP1O145193EBI-10171416,EBI-1052532
CEP57L1Q8IYX83EBI-10171416,EBI-1104570
CEP57L1Q8IYX8-23EBI-10171416,EBI-10181988
CWF19L2Q2TBE03EBI-10171416,EBI-5453285
ENKD1Q9H0I23EBI-10171416,EBI-744099
FAM107AO95990-33EBI-10171416,EBI-10192902
FAM161AQ3B8203EBI-10171416,EBI-719941
HAUS1Q96CS23EBI-10171416,EBI-2514791
HDAC4P565243EBI-10171416,EBI-308629
HMG20AQ9NP663EBI-10171416,EBI-740641
HMG20BQ9P0W23EBI-10171416,EBI-713401
JMYQ8N9B5-23EBI-10171416,EBI-10268138
KANSL1Q7Z3B33EBI-10171416,EBI-740244
KAT5Q929933EBI-10171416,EBI-399080
KIFC3Q9BVG83EBI-10171416,EBI-2125614
LENG1Q96BZ83EBI-10171416,EBI-726510
MAGEB4O154813EBI-10171416,EBI-751857
MOSP005403EBI-10171416,EBI-1757866
PDLIM5Q96HC43EBI-10171416,EBI-751267
PPP1R18Q6NYC83EBI-10171416,EBI-2557469
PRPF31Q8WWY33EBI-10171416,EBI-1567797
PSMD9O002333EBI-10171416,EBI-750973
RAB33AQ140883EBI-10171416,EBI-744685
RYDENQ9NUL53EBI-10171416,EBI-10313866
SMARCE1Q969G33EBI-10171416,EBI-455078
TBRG1Q05BL03EBI-10171416,EBI-10223693
TCEA2Q155603EBI-10171416,EBI-710310
TNNT1P138053EBI-10171416,EBI-726527
TXLNAP402225EBI-10171416,EBI-359793
USP2O756043EBI-10171416,EBI-743272
ZC2HC1CQ53FD03EBI-10171416,EBI-740767
ZNF20P170243EBI-10171416,EBI-717634
ZNF230Q9UIE03EBI-10171416,EBI-1105361
ZNF250P15622-33EBI-10171416,EBI-10177272
ZNF417Q8TAU33EBI-10171416,EBI-740727
ZNF490Q9ULM23EBI-10171416,EBI-1105370
ZNF564Q8TBZ83EBI-10171416,EBI-10273713
ZNF572Q7Z3I76EBI-10171416,EBI-10172590
ZNF581Q9P0T43EBI-10171416,EBI-745520
ZNF587Q96SQ53EBI-10171416,EBI-6427977
ZSCAN26Q166703EBI-10171416,EBI-3920053

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122267, 83 interactors

Protein interaction database and analysis system

More...
IntActi
Q96JN2, 63 interactors

Molecular INTeraction database

More...
MINTi
Q96JN2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297788

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96JN2

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili696 – 733Sequence analysisAdd BLAST38
Coiled coili859 – 974Sequence analysisAdd BLAST116

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi5 – 337Glu-richAdd BLAST333
Compositional biasi771 – 834Ser-richAdd BLAST64
Compositional biasi1036 – 1110Glu-richAdd BLAST75

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II92 Eukaryota
ENOG4111KB8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159122

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96JN2

Identification of Orthologs from Complete Genome Data

More...
OMAi
CTLQKKY

Database of Orthologous Groups

More...
OrthoDBi
220934at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96JN2

TreeFam database of animal gene trees

More...
TreeFami
TF350490

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96JN2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQAMEGEVLL PALYEEEEEE EEEEEEVEEE EEQVQKGGSV GSLSVNKHRG
60 70 80 90 100
LSLTETELEE LRAQVLQLVA ELEETRELAG QHEDDSLELQ GLLEDERLAS
110 120 130 140 150
AQQAEVFTKQ IQQLQGELRS LREEISLLEH EKESELKEIE QELHLAQAEI
160 170 180 190 200
QSLRQAAEDS ATEHESDIAS LQEDLCRMQN ELEDMERIRG DYEMEIASLR
210 220 230 240 250
AEMEMKSSEP SGSLGLSDYS GLQEELQELR ERYHFLNEEY RALQESNSSL
260 270 280 290 300
TGQLADLESE RTQRATERWL QSQTLSMTSA ESQTSEMDFL EPDPEMQLLR
310 320 330 340 350
QQLRDAEEQM HGMKNKCQEL CCELEELQHH RQVSEEEQRR LQRELKCAQN
360 370 380 390 400
EVLRFQTSHS VTQNEELKSR LCTLQKKYDT SQDEQNELLK MQLQLQTELR
410 420 430 440 450
QLKVMKSTLV ENQSEKELLC RLQKLHLQHQ NVTCEKEKLL ERQQQLQEEL
460 470 480 490 500
QCHEAELQHL RDTVASFKES NEKDTETHAQ LQEMKQLYQA SKDELERQKH
510 520 530 540 550
MYDQLEQDLL LCQLELKELK ASHPIPEDKG KCANKCDTLL SRLTELQEKY
560 570 580 590 600
KASQKEMGQL QMEQCELLED QRRMQEEQGQ LQEELHRLTL PLPKSGLLLK
610 620 630 640 650
SQELLTKLED LCELQLLYQG MQEEQKKLIQ NQDCVLKEQL EIHEELRRFK
660 670 680 690 700
ESHFQEVLEN PDDSKLAKSS KCNRNKQSKL LMEQMQALQV MYDAGQAKQE
710 720 730 740 750
LLQQEQGRLL EERKRLQADL QLCLEEMQLL QVQSPSIKMS LESYGKSYGS
760 770 780 790 800
MVPSNENCRK TYDTTVDDNE SYYKSYTSTQ TSSKSFLKSY DSSTSASEAY
810 820 830 840 850
GKSYCTTSNS SITYKKSYGS TSSSDTCQKS FVSSCTDEEP AEPEDMERFE
860 870 880 890 900
EMVVKVLIKL QAVQAMYQIS QEEHSQLQEQ MEKLLAKQKD LKEELDACER
910 920 930 940 950
EFKECMECLE KPMAPQNDKN EIKELQTKLR ELQLQYQASM DEQGRLLVVQ
960 970 980 990 1000
EQLEGQLQCC QEELRQLREK RPSVVKEARG KNANKNMNKN ANGVKMKKVT
1010 1020 1030 1040 1050
KPCSDTSESD LETRKSLEVV LYYKASQRKL DGLAKEEEKK EEMEEEKKQV
1060 1070 1080 1090 1100
KEEAKEQCGD ELVAEPADPE EAKSTEDQEE NEEDKEEEEK EEDSEEEEDD
1110 1120 1130 1140 1150
ADSSLESPEE NNPLRLSESK KSSPTPNPPI FSLPLVGLVV ISALLWCWWA

ETSS
Length:1,154
Mass (Da):134,045
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFBB50829AB97E425
GO
Isoform 2 (identifier: Q96JN2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-957: IKELQTKLRELQLQYQASMDEQGRLLVVQEQLEGQL → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME
     958-1154: Missing.

Note: No experimental confirmation available.
Show »
Length:957
Mass (Da):111,548
Checksum:iDD6A801C6E538D62
GO
Isoform 3 (identifier: Q96JN2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEAGAGAGAGAAGWSCPGPGPTVTTLGSYEASEGCERKKGQRWGSLERRGM
     212-223: Missing.
     364-1121: Missing.

Note: No experimental confirmation available.
Show »
Length:434
Mass (Da):49,449
Checksum:iF3C01606AC2030A3
GO
Isoform 4 (identifier: Q96JN2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1122-1154: SSPTPNPPIFSLPLVGLVVISALLWCWWAETSS → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME

Note: No experimental confirmation available.
Show »
Length:1,157
Mass (Da):134,668
Checksum:iA96EF279E8202DAD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4R2H7C4R2_HUMAN
Coiled-coil domain-containing prote...
CCDC136
1,034Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JE17C9JE17_HUMAN
Coiled-coil domain-containing prote...
CCDC136
515Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JU31C9JU31_HUMAN
Coiled-coil domain-containing prote...
CCDC136
446Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IYI5C9IYI5_HUMAN
Coiled-coil domain-containing prote...
CCDC136
137Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y876H0Y876_HUMAN
Coiled-coil domain-containing prote...
CCDC136
548Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J884C9J884_HUMAN
Coiled-coil domain-containing prote...
CCDC136
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JAD8C9JAD8_HUMAN
Coiled-coil domain-containing prote...
CCDC136
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AF156971 differs from that shown. Intron retention.Curated
The sequence BAB14590 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB47422 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti263 – 264QR → HG in CAB61359 (PubMed:17974005).Curated2
Sequence conflicti490A → V in BAB14590 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_034880218D → H. Corresponds to variant dbSNP:rs3816887Ensembl.1
Natural variantiVAR_0348811049Q → E5 PublicationsCorresponds to variant dbSNP:rs4728137Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0278401M → MEAGAGAGAGAAGWSCPGPG PTVTTLGSYEASEGCERKKG QRWGSLERRGM in isoform 3. 1 Publication1
Alternative sequenceiVSP_027841212 – 223Missing in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_027842364 – 1121Missing in isoform 3. 1 PublicationAdd BLAST758
Alternative sequenceiVSP_027843922 – 957IKELQ…LEGQL → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_027844958 – 1154Missing in isoform 2. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_0278451122 – 1154SSPTP…AETSS → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 4. 2 PublicationsAdd BLAST33

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB058696 mRNA Translation: BAB47422.1 Different initiation.
AK023500 mRNA Translation: BAB14590.1 Different initiation.
AK124447 mRNA Translation: BAC85854.1
AC024952 Genomic DNA No translation available.
AC025594 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24111.1
CH471070 Genomic DNA Translation: EAW83682.1
CH471070 Genomic DNA Translation: EAW83684.1
BC150331 mRNA Translation: AAI50332.1
BC152408 mRNA Translation: AAI52409.1
AL133027 mRNA Translation: CAB61359.1
AF156971 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS47704.1 [Q96JN2-1]
CCDS56510.1 [Q96JN2-3]

Protein sequence database of the Protein Information Resource

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PIRi
T42701

NCBI Reference Sequences

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RefSeqi
NP_001188301.1, NM_001201372.1 [Q96JN2-3]
NP_073579.4, NM_022742.4 [Q96JN2-1]
XP_016868022.1, XM_017012533.1 [Q96JN2-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297788; ENSP00000297788; ENSG00000128596 [Q96JN2-1]
ENST00000378685; ENSP00000367956; ENSG00000128596 [Q96JN2-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64753

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64753

UCSC genome browser

More...
UCSCi
uc003vnu.3 human [Q96JN2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058696 mRNA Translation: BAB47422.1 Different initiation.
AK023500 mRNA Translation: BAB14590.1 Different initiation.
AK124447 mRNA Translation: BAC85854.1
AC024952 Genomic DNA No translation available.
AC025594 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24111.1
CH471070 Genomic DNA Translation: EAW83682.1
CH471070 Genomic DNA Translation: EAW83684.1
BC150331 mRNA Translation: AAI50332.1
BC152408 mRNA Translation: AAI52409.1
AL133027 mRNA Translation: CAB61359.1
AF156971 mRNA No translation available.
CCDSiCCDS47704.1 [Q96JN2-1]
CCDS56510.1 [Q96JN2-3]
PIRiT42701
RefSeqiNP_001188301.1, NM_001201372.1 [Q96JN2-3]
NP_073579.4, NM_022742.4 [Q96JN2-1]
XP_016868022.1, XM_017012533.1 [Q96JN2-4]

3D structure databases

SMRiQ96JN2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122267, 83 interactors
IntActiQ96JN2, 63 interactors
MINTiQ96JN2
STRINGi9606.ENSP00000297788

PTM databases

iPTMnetiQ96JN2
PhosphoSitePlusiQ96JN2

Polymorphism and mutation databases

BioMutaiCCDC136
DMDMi296439415

Proteomic databases

jPOSTiQ96JN2
MaxQBiQ96JN2
PaxDbiQ96JN2
PeptideAtlasiQ96JN2
PRIDEiQ96JN2
ProteomicsDBi76991
76992 [Q96JN2-2]
76993 [Q96JN2-3]
76994 [Q96JN2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297788; ENSP00000297788; ENSG00000128596 [Q96JN2-1]
ENST00000378685; ENSP00000367956; ENSG00000128596 [Q96JN2-3]
GeneIDi64753
KEGGihsa:64753
UCSCiuc003vnu.3 human [Q96JN2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64753
DisGeNETi64753

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC136
HGNCiHGNC:22225 CCDC136
HPAiHPA010647
HPA071015
MIMi611902 gene
neXtProtiNX_Q96JN2
OpenTargetsiENSG00000128596
PharmGKBiPA162381381

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II92 Eukaryota
ENOG4111KB8 LUCA
GeneTreeiENSGT00940000159122
InParanoidiQ96JN2
OMAiCTLQKKY
OrthoDBi220934at2759
PhylomeDBiQ96JN2
TreeFamiTF350490

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64753

Protein Ontology

More...
PROi
PR:Q96JN2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000128596 Expressed in 165 organ(s), highest expression level in testis
ExpressionAtlasiQ96JN2 baseline and differential
GenevisibleiQ96JN2 HS

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCC136_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96JN2
Secondary accession number(s): A4D1K1
, A7MCY7, A8MYA7, Q6ZVK7, Q9H8M3, Q9UFE1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: May 8, 2019
This is version 117 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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