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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-Experimental evidence at protein leveli

Functioni

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

Keywords - Biological processi

Differentiation, Fertilization, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 136
Alternative name(s):
Nasopharyngeal carcinoma-associated gene 6 protein
Gene namesi
Name:CCDC136
Synonyms:KIAA1793
ORF Names:NAG6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22225. CCDC136.

Subcellular locationi

  • Cytoplasmic vesiclesecretory vesicleacrosome membrane By similarity; Single-pass membrane protein By similarity

  • Note: Exclusively localized on a peripheral part of acrosome membrane (Golgi phase), localized on the equatorial segment of the acrosome (maturation phase).By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1130 – 1150HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000128596.
PharmGKBiPA162381381.

Polymorphism and mutation databases

BioMutaiCCDC136.
DMDMi296439415.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003006391 – 1154Coiled-coil domain-containing protein 136Add BLAST1154

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei52PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96JN2.
MaxQBiQ96JN2.
PaxDbiQ96JN2.
PeptideAtlasiQ96JN2.
PRIDEiQ96JN2.

PTM databases

iPTMnetiQ96JN2.
PhosphoSitePlusiQ96JN2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000128596.
CleanExiHS_CCDC136.
ExpressionAtlasiQ96JN2. baseline and differential.
GenevisibleiQ96JN2. HS.

Organism-specific databases

HPAiHPA010647.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
A8KAD63EBI-10171416,EBI-10174974
Q9H6F03EBI-10171416,EBI-10307481
ABT1Q9ULW33EBI-10171416,EBI-2602396
AQP1P299723EBI-10171416,EBI-745213
ASB7Q9H6723EBI-10171416,EBI-3916346
ATP5OP480473EBI-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
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
KANSL1I3L4J33EBI-10171416,EBI-10178305
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
PRPF31F1T0A53EBI-10171416,EBI-10177194
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
ZNF572A1L4E93EBI-10171416,EBI-10172590
ZNF572Q7Z3I73EBI-10171416,EBI-10257016
ZNF581Q9P0T43EBI-10171416,EBI-745520
ZNF587Q96SQ53EBI-10171416,EBI-6427977
ZSCAN26Q166703EBI-10171416,EBI-3920053

Protein-protein interaction databases

BioGridi122267. 78 interactors.
IntActiQ96JN2. 63 interactors.
STRINGi9606.ENSP00000297788.

Structurei

3D structure databases

ProteinModelPortaliQ96JN2.
SMRiQ96JN2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili696 – 733Sequence analysisAdd BLAST38
Coiled coili859 – 974Sequence analysisAdd BLAST116

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 337Glu-richAdd BLAST333
Compositional biasi771 – 834Ser-richAdd BLAST64
Compositional biasi1036 – 1110Glu-richAdd BLAST75

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II92. Eukaryota.
ENOG4111KB8. LUCA.
GeneTreeiENSGT00530000063197.
HOVERGENiHBG107598.
InParanoidiQ96JN2.
OMAiNKCDTLL.
OrthoDBiEOG091G020S.
PhylomeDBiQ96JN2.
TreeFamiTF350490.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

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
Sequence conflicti263 – 264QR → HG in CAB61359 (PubMed:17974005).Curated2
Sequence conflicti490A → V in BAB14590 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034880218D → H.Corresponds to variant rs3816887dbSNPEnsembl.1
Natural variantiVAR_0348811049Q → E.5 PublicationsCorresponds to variant rs4728137dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.
XP_016868022.1. XM_017012533.1. [Q96JN2-4]
UniGeneiHs.521178.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
XP_016868022.1. XM_017012533.1. [Q96JN2-4]
UniGeneiHs.521178.

3D structure databases

ProteinModelPortaliQ96JN2.
SMRiQ96JN2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122267. 78 interactors.
IntActiQ96JN2. 63 interactors.
STRINGi9606.ENSP00000297788.

PTM databases

iPTMnetiQ96JN2.
PhosphoSitePlusiQ96JN2.

Polymorphism and mutation databases

BioMutaiCCDC136.
DMDMi296439415.

Proteomic databases

EPDiQ96JN2.
MaxQBiQ96JN2.
PaxDbiQ96JN2.
PeptideAtlasiQ96JN2.
PRIDEiQ96JN2.

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

CTDi64753.
GeneCardsiCCDC136.
HGNCiHGNC:22225. CCDC136.
HPAiHPA010647.
MIMi611902. gene.
neXtProtiNX_Q96JN2.
OpenTargetsiENSG00000128596.
PharmGKBiPA162381381.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II92. Eukaryota.
ENOG4111KB8. LUCA.
GeneTreeiENSGT00530000063197.
HOVERGENiHBG107598.
InParanoidiQ96JN2.
OMAiNKCDTLL.
OrthoDBiEOG091G020S.
PhylomeDBiQ96JN2.
TreeFamiTF350490.

Miscellaneous databases

GenomeRNAii64753.
PROiQ96JN2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128596.
CleanExiHS_CCDC136.
ExpressionAtlasiQ96JN2. baseline and differential.
GenevisibleiQ96JN2. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiCC136_HUMAN
AccessioniPrimary (citable) accession number: Q96JN2
Secondary accession number(s): A4D1K1
, A7MCY7, A8MYA7, Q6ZVK7, Q9H8M3, Q9UFE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 100 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.