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Q96JN2 (CC136_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 136
Alternative name(s):
Nasopharyngeal carcinoma-associated gene 6 protein
Gene names
Name:CCDC136
Synonyms:KIAA1793
ORF Names:NAG6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1154 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Single-pass membrane protein Potential.

Tissue specificity

Expressed in gastric tissues. Down-regulated in gastric cancer. Ref.8

Miscellaneous

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

Sequence caution

The sequence AF156971 differs from that shown. Reason: Intron retention.

The sequence BAB14590.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB47422.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JN2-1)

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.
Isoform 2 (identifier: Q96JN2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     922-957: IKELQTKLRELQLQYQASMDEQGRLLVVQEQLEGQL → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME
     958-1154: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96JN2-3)

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.
Isoform 4 (identifier: Q96JN2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1122-1154: SSPTPNPPIFSLPLVGLVVISALLWCWWAETSS → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11541154Coiled-coil domain-containing protein 136
PRO_0000300639

Regions

Transmembrane1130 – 115021Helical; Potential
Coiled coil696 – 73338 Potential
Coiled coil859 – 974116 Potential
Compositional bias5 – 337333Glu-rich
Compositional bias771 – 83464Ser-rich
Compositional bias1036 – 111075Glu-rich

Natural variations

Alternative sequence11M → MEAGAGAGAGAAGWSCPGPG PTVTTLGSYEASEGCERKKG QRWGSLERRGM in isoform 3.
VSP_027840
Alternative sequence212 – 22312Missing in isoform 3.
VSP_027841
Alternative sequence364 – 1121758Missing in isoform 3.
VSP_027842
Alternative sequence922 – 95736IKELQ…LEGQL → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 2.
VSP_027843
Alternative sequence958 – 1154197Missing in isoform 2.
VSP_027844
Alternative sequence1122 – 115433SSPTP…AETSS → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 4.
VSP_027845
Natural variant2181D → H.
Corresponds to variant rs3816887 [ dbSNP | Ensembl ].
VAR_034880
Natural variant10491Q → E. Ref.1 Ref.4 Ref.5 Ref.6 Ref.7
Corresponds to variant rs4728137 [ dbSNP | Ensembl ].
VAR_034881

Experimental info

Sequence conflict263 – 2642QR → HG in CAB61359. Ref.7
Sequence conflict4901A → V in BAB14590. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: FBB50829AB97E425

FASTA1,154134,045
        10         20         30         40         50         60 
MQAMEGEVLL PALYEEEEEE EEEEEEVEEE EEQVQKGGSV GSLSVNKHRG LSLTETELEE 

        70         80         90        100        110        120 
LRAQVLQLVA ELEETRELAG QHEDDSLELQ GLLEDERLAS AQQAEVFTKQ IQQLQGELRS 

       130        140        150        160        170        180 
LREEISLLEH EKESELKEIE QELHLAQAEI QSLRQAAEDS ATEHESDIAS LQEDLCRMQN 

       190        200        210        220        230        240 
ELEDMERIRG DYEMEIASLR AEMEMKSSEP SGSLGLSDYS GLQEELQELR ERYHFLNEEY 

       250        260        270        280        290        300 
RALQESNSSL TGQLADLESE RTQRATERWL QSQTLSMTSA ESQTSEMDFL EPDPEMQLLR 

       310        320        330        340        350        360 
QQLRDAEEQM HGMKNKCQEL CCELEELQHH RQVSEEEQRR LQRELKCAQN EVLRFQTSHS 

       370        380        390        400        410        420 
VTQNEELKSR LCTLQKKYDT SQDEQNELLK MQLQLQTELR QLKVMKSTLV ENQSEKELLC 

       430        440        450        460        470        480 
RLQKLHLQHQ NVTCEKEKLL ERQQQLQEEL QCHEAELQHL RDTVASFKES NEKDTETHAQ 

       490        500        510        520        530        540 
LQEMKQLYQA SKDELERQKH MYDQLEQDLL LCQLELKELK ASHPIPEDKG KCANKCDTLL 

       550        560        570        580        590        600 
SRLTELQEKY KASQKEMGQL QMEQCELLED QRRMQEEQGQ LQEELHRLTL PLPKSGLLLK 

       610        620        630        640        650        660 
SQELLTKLED LCELQLLYQG MQEEQKKLIQ NQDCVLKEQL EIHEELRRFK ESHFQEVLEN 

       670        680        690        700        710        720 
PDDSKLAKSS KCNRNKQSKL LMEQMQALQV MYDAGQAKQE LLQQEQGRLL EERKRLQADL 

       730        740        750        760        770        780 
QLCLEEMQLL QVQSPSIKMS LESYGKSYGS MVPSNENCRK TYDTTVDDNE SYYKSYTSTQ 

       790        800        810        820        830        840 
TSSKSFLKSY DSSTSASEAY GKSYCTTSNS SITYKKSYGS TSSSDTCQKS FVSSCTDEEP 

       850        860        870        880        890        900 
AEPEDMERFE EMVVKVLIKL QAVQAMYQIS QEEHSQLQEQ MEKLLAKQKD LKEELDACER 

       910        920        930        940        950        960 
EFKECMECLE KPMAPQNDKN EIKELQTKLR ELQLQYQASM DEQGRLLVVQ EQLEGQLQCC 

       970        980        990       1000       1010       1020 
QEELRQLREK RPSVVKEARG KNANKNMNKN ANGVKMKKVT KPCSDTSESD LETRKSLEVV 

      1030       1040       1050       1060       1070       1080 
LYYKASQRKL DGLAKEEEKK EEMEEEKKQV KEEAKEQCGD ELVAEPADPE EAKSTEDQEE 

      1090       1100       1110       1120       1130       1140 
NEEDKEEEEK EEDSEEEEDD ADSSLESPEE NNPLRLSESK KSSPTPNPPI FSLPLVGLVV 

      1150 
ISALLWCWWA ETSS 

« Hide

Isoform 2 [UniParc].

Checksum: DD6A801C6E538D62
Show »

FASTA957111,548
Isoform 3 [UniParc].

Checksum: F3C01606AC2030A3
Show »

FASTA43449,449
Isoform 4 [UniParc].

Checksum: A96EF279E8202DAD
Show »

FASTA1,157134,668

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-1049.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-1154 (ISOFORM 2).
Tissue: Cerebellum and Placenta.
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1049.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1049.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-1049.
Tissue: Brain.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 125-1154 (ISOFORM 4), VARIANT GLU-1049.
Tissue: Testis.
[8]"Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis."
Zhang X.-M., Sheng S.-R., Wang X.-Y., Bin L.-H., Wang J.-R., Li G.-Y.
World J. Gastroenterol. 10:1361-1364(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1128-1154 (ISOFORM 4), TISSUE SPECIFICITY.
Tissue: Nasopharyngeal carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47704.1. [Q96JN2-1]
CCDS56510.1. [Q96JN2-3]
PIRT42701.
RefSeqNP_001188301.1. NM_001201372.1. [Q96JN2-3]
NP_073579.4. NM_022742.4.
UniGeneHs.521178.

3D structure databases

ProteinModelPortalQ96JN2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122267. 8 interactions.
IntActQ96JN2. 8 interactions.
STRING9606.ENSP00000297788.

PTM databases

PhosphoSiteQ96JN2.

Polymorphism databases

DMDM296439415.

Proteomic databases

MaxQBQ96JN2.
PaxDbQ96JN2.
PRIDEQ96JN2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297788; ENSP00000297788; ENSG00000128596. [Q96JN2-1]
ENST00000378685; ENSP00000367956; ENSG00000128596. [Q96JN2-3]
GeneID64753.
KEGGhsa:64753.
UCSCuc003vnu.2. human. [Q96JN2-3]
uc003vnv.2. human. [Q96JN2-1]
uc003vny.2. human. [Q96JN2-2]

Organism-specific databases

CTD64753.
GeneCardsGC07P128430.
HGNCHGNC:22225. CCDC136.
HPAHPA010647.
MIM611902. gene.
neXtProtNX_Q96JN2.
PharmGKBPA162381381.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG131615.
HOVERGENHBG107598.
InParanoidQ96JN2.
OMAQLQMEQC.
OrthoDBEOG7X0VGH.
PhylomeDBQ96JN2.
TreeFamTF350490.

Gene expression databases

ArrayExpressQ96JN2.
BgeeQ96JN2.
CleanExHS_CCDC136.
GenevestigatorQ96JN2.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi64753.
NextBio66713.
PROQ96JN2.
SOURCESearch...

Entry information

Entry nameCC136_HUMAN
AccessionPrimary (citable) accession number: Q96JN2
Secondary accession number(s): A4D1K1 expand/collapse secondary AC list , A7MCY7, A8MYA7, Q6ZVK7, Q9H8M3, Q9UFE1
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 80 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM