Q9H7U1 (CCSE2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Serine-rich coiled-coil domain-containing protein 2

Alternative name(s):
Coiled-coil serine-rich protein 2
Protein GCAP14 homolog

Gene names

Name:	CCSER2
Synonyms:	FAM190B, KIAA1128
ORF Names:	NPD012

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	834 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the CCSER family.
Sequence caution	The sequence AAG44473.1 differs from that shown. Reason: Frameshift at positions 187, 240 and 244. The sequence AAH30528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI40902.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H7U1-1)

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: Q9H7U1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     539-567: DILNNLESCDLEDDDLMLDVDLPEDAPLE → VCMDLYTLGIFCLPYYRETCDMIDFVKNL
     568-834: Missing.

Isoform 3 (identifier: Q9H7U1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     776-834: GGYSAPSFSP...NKATTYRGPQ → PQVLQPSSSL...YSRLPKPKIH

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 834	834	Serine-rich coiled-coil domain-containing protein 2		PRO_0000309461
Regions
	Coiled coil	712 – 749	38	Potential
	Compositional bias	604 – 616	13	His-rich
Amino acid modifications
	Modified residue	225	1	Phosphoserine By similarity
	Modified residue	452	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	539 – 567	29	DILNN…DAPLE → VCMDLYTLGIFCLPYYRETC DMIDFVKNL in isoform 2.		VSP_029180
	Alternative sequence	568 – 834	267	Missing in isoform 2.		VSP_029181
	Alternative sequence	776 – 834	59	GGYSA…YRGPQ → PQVLQPSSSLPRPTDHTQGK LIKPQRIEARSECSIQDMHQ GGAHPEESFTHVLHQESNYG LEEQPFSSGPQLTMDVAKST PSEANLNITVNAQEPYHLAN NQISDMQFIPTSLQTPPESS TVDQAKRVGRNQSPPVGYMS QPKSLQLLKPSILSSLVPPP VSESSPSRTPTCKKSPIITT CNSAKLQPTSSQTNLANNQN LKASKLRPPSGSFKQKQTNS PQLEPQSFQAKTSIPRPLTQ RKEIMQNPNGNLHSGDCLAS NRYSRLPKPKIH in isoform 3.		VSP_040287
	Natural variant	84	1	N → S. Corresponds to variant rs3814205 [ dbSNP | Ensembl ].		VAR_036952
	Natural variant	755	1	C → Y. Corresponds to variant rs11201058 [ dbSNP | Ensembl ].		VAR_036953
	Natural variant	819	1	S → P. Corresponds to variant rs11557865 [ dbSNP | Ensembl ].		VAR_036954
	Natural variant	821	1	P → S. Corresponds to variant rs12569751 [ dbSNP | Ensembl ].		VAR_036955
Experimental info
	Sequence conflict	155	1	G → C in AAG44473. Ref.5
	Sequence conflict	215	1	C → Y in BAB14884. Ref.4
	Sequence conflict	457	1	E → G in BAB14884. Ref.4
	Sequence conflict	524	1	V → A in BAG61061. Ref.1
	Sequence conflict	540	1	I → V in BAG61061. Ref.1
	Sequence conflict	667	1	H → R in BAG61061. Ref.1
Isoform 3:
	Sequence conflict	782	1	S → F in BAG61061. Ref.1
	Sequence conflict	881	1	M → I in BAG61061. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 036713F1975242A3	FASTA	834	93,548
	10 20 30 40 50 60 MEEKTQIKTF LGSKLPKYGT KSVRSTLQPM PNGTPVNLLG TSKNSNVKSY IKNNGSDCPS 70 80 90 100 110 120 SHSFNWRKAN KYQLCAQGVE EPNNTQNSHD KIIDPEKRVP TQGMFDKNGI KGGLKSVSLF 130 140 150 160 170 180 TSKLAKPSTM FVSSTEELNQ KSFSGPSNLG KFTKGTLLGR TSYSSINTPK SQLNGFYGNR 190 200 210 220 230 240 SAGSMQRPRA NSCATRSSSG ESLAQSPDSS KSINCEKMVR SQSFSHSIQN SFLPPSSITR 250 260 270 280 290 300 SHSFNRAVDL TKPYQNQQLS IRVPLRSSML TRNSRQPEVL NGNEHLGYGF NRPYAAGGKK 310 320 330 340 350 360 LALPNGPGVT STLGYRMVHP SLLKSSRSPF SGTMTVDGNK NSPADTCVEE DATVLAKDRA 370 380 390 400 410 420 ANKDQELIEN ESYRTKNNQT MKHDAKMRYL SDDVDDISLS SLSSSDKNDL SEDFSDDFID 430 440 450 460 470 480 IEDSNRTRIT PEEMSLKEEK HENGPPQDMF DSPKENEKAF SKTDEWIDIS VSDRSECTKH 490 500 510 520 530 540 TSGNNLVSPD TDYRAGSSFE LSPSDSSDGT YMWDEEGLEP IGNVHPVGSY ESSEMNSIDI 550 560 570 580 590 600 LNNLESCDLE DDDLMLDVDL PEDAPLENVE CDNMNRFDRP DRNVRQPQEG FWKRPPQRWS 610 620 630 640 650 660 GQEHYHLSHP DHYHHHGKSD LSRGSPYRES PLGHFESYGG MPFFQAQKMF VDVPENTVIL 670 680 690 700 710 720 DEMTLRHMVQ DCTAVKTQLL KLKRLLHQHD GSGSLHDIQL SLPSSPEPED GDKVYKNEDL 730 740 750 760 770 780 LNEIKQLKDE IKKKDEKIQL LELQLATQHI CHQKCKEEKC TYADKYTQTP WRRIPGGYSA 790 800 810 820 830 PSFSPWQGSF QGIPRTVPPH RRQTSSTTAF QQPSQTHRSH PGKTNKATTY RGPQ
	Isoform 2 [UniParc]. Checksum: 5326DD577A85F838	FASTA	567	62,760
	10 20 30 40 50 60 MEEKTQIKTF LGSKLPKYGT KSVRSTLQPM PNGTPVNLLG TSKNSNVKSY IKNNGSDCPS 70 80 90 100 110 120 SHSFNWRKAN KYQLCAQGVE EPNNTQNSHD KIIDPEKRVP TQGMFDKNGI KGGLKSVSLF 130 140 150 160 170 180 TSKLAKPSTM FVSSTEELNQ KSFSGPSNLG KFTKGTLLGR TSYSSINTPK SQLNGFYGNR 190 200 210 220 230 240 SAGSMQRPRA NSCATRSSSG ESLAQSPDSS KSINCEKMVR SQSFSHSIQN SFLPPSSITR 250 260 270 280 290 300 SHSFNRAVDL TKPYQNQQLS IRVPLRSSML TRNSRQPEVL NGNEHLGYGF NRPYAAGGKK 310 320 330 340 350 360 LALPNGPGVT STLGYRMVHP SLLKSSRSPF SGTMTVDGNK NSPADTCVEE DATVLAKDRA 370 380 390 400 410 420 ANKDQELIEN ESYRTKNNQT MKHDAKMRYL SDDVDDISLS SLSSSDKNDL SEDFSDDFID 430 440 450 460 470 480 IEDSNRTRIT PEEMSLKEEK HENGPPQDMF DSPKENEKAF SKTDEWIDIS VSDRSECTKH 490 500 510 520 530 540 TSGNNLVSPD TDYRAGSSFE LSPSDSSDGT YMWDEEGLEP IGNVHPVGSY ESSEMNSIVC 550 560 MDLYTLGIFC LPYYRETCDM IDFVKNL
	Isoform 3 [UniParc]. Checksum: E7C0A74671809440	FASTA	1,047	116,913
	10 20 30 40 50 60 MEEKTQIKTF LGSKLPKYGT KSVRSTLQPM PNGTPVNLLG TSKNSNVKSY IKNNGSDCPS 70 80 90 100 110 120 SHSFNWRKAN KYQLCAQGVE EPNNTQNSHD KIIDPEKRVP TQGMFDKNGI KGGLKSVSLF 130 140 150 160 170 180 TSKLAKPSTM FVSSTEELNQ KSFSGPSNLG KFTKGTLLGR TSYSSINTPK SQLNGFYGNR 190 200 210 220 230 240 SAGSMQRPRA NSCATRSSSG ESLAQSPDSS KSINCEKMVR SQSFSHSIQN SFLPPSSITR 250 260 270 280 290 300 SHSFNRAVDL TKPYQNQQLS IRVPLRSSML TRNSRQPEVL NGNEHLGYGF NRPYAAGGKK 310 320 330 340 350 360 LALPNGPGVT STLGYRMVHP SLLKSSRSPF SGTMTVDGNK NSPADTCVEE DATVLAKDRA 370 380 390 400 410 420 ANKDQELIEN ESYRTKNNQT MKHDAKMRYL SDDVDDISLS SLSSSDKNDL SEDFSDDFID 430 440 450 460 470 480 IEDSNRTRIT PEEMSLKEEK HENGPPQDMF DSPKENEKAF SKTDEWIDIS VSDRSECTKH 490 500 510 520 530 540 TSGNNLVSPD TDYRAGSSFE LSPSDSSDGT YMWDEEGLEP IGNVHPVGSY ESSEMNSIDI 550 560 570 580 590 600 LNNLESCDLE DDDLMLDVDL PEDAPLENVE CDNMNRFDRP DRNVRQPQEG FWKRPPQRWS 610 620 630 640 650 660 GQEHYHLSHP DHYHHHGKSD LSRGSPYRES PLGHFESYGG MPFFQAQKMF VDVPENTVIL 670 680 690 700 710 720 DEMTLRHMVQ DCTAVKTQLL KLKRLLHQHD GSGSLHDIQL SLPSSPEPED GDKVYKNEDL 730 740 750 760 770 780 LNEIKQLKDE IKKKDEKIQL LELQLATQHI CHQKCKEEKC TYADKYTQTP WRRIPPQVLQ 790 800 810 820 830 840 PSSSLPRPTD HTQGKLIKPQ RIEARSECSI QDMHQGGAHP EESFTHVLHQ ESNYGLEEQP 850 860 870 880 890 900 FSSGPQLTMD VAKSTPSEAN LNITVNAQEP YHLANNQISD MQFIPTSLQT PPESSTVDQA 910 920 930 940 950 960 KRVGRNQSPP VGYMSQPKSL QLLKPSILSS LVPPPVSESS PSRTPTCKKS PIITTCNSAK 970 980 990 1000 1010 1020 LQPTSSQTNL ANNQNLKASK LRPPSGSFKQ KQTNSPQLEP QSFQAKTSIP RPLTQRKEIM 1030 1040 QNPNGNLHSG DCLASNRYSR LPKPKIH

References

[1]	"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. , 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 1-110 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-730 (ISOFORM 1). Tissue: Placenta and Teratocarcinoma.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 2). Tissue: Lung.
[5]	Cheng Z., Gao G., Peng Y., Ren S., Chen Z., Han Z. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 85-834 (ISOFORM 1). Tissue: Pituitary.
[6]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 247-834 (ISOFORM 1). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK024324 mRNA. Translation: BAB14884.1. AK298966 mRNA. Translation: BAG61061.1. DC366088 mRNA. No translation available. AL356115, AC074321 Genomic DNA. Translation: CAI40902.1. Sequence problems. CH471142 Genomic DNA. Translation: EAW80350.1. CH471142 Genomic DNA. Translation: EAW80352.1. BC030528 mRNA. Translation: AAH30528.1. Different initiation. AF241785 mRNA. Translation: AAG44473.1. Frameshift. AB032954 mRNA. Translation: BAA86442.1.
IPI	IPI00146077. IPI00166997. IPI00423392.
RefSeq	NP_061872.2. NM_018999.2.
UniGene	Hs.461988.
3D structure databases
ProteinModelPortal	Q9H7U1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H7U1. 10 interactions.
MINT	MINT-1400475.
STRING	9606.ENSP00000224756.
PTM databases
PhosphoSite	Q9H7U1.
Polymorphism databases
DMDM	160386966.
Proteomic databases
PaxDb	Q9H7U1.
PRIDE	Q9H7U1.
Protocols and materials databases
DNASU	54462.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000224756; ENSP00000224756; ENSG00000107771. ENST00000359979; ENSP00000353068; ENSG00000107771. ENST00000372088; ENSP00000361160; ENSG00000107771.
GeneID	54462.
KEGG	hsa:54462.
UCSC	uc001kdg.1. human. uc001kdh.1. human. uc010qmd.1. human.
Organism-specific databases
CTD	54462.
GeneCards	GC10P086079.
H-InvDB	HIX0008990.
HGNC	HGNC:29197. CCSER2.
HPA	HPA037481. HPA037482.
neXtProt	NX_Q9H7U1.
PharmGKB	PA165548597.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG87044.
InParanoid	Q9H7U1.
OMA	RSECTKH.
OrthoDB	EOG4PZJ62.
Gene expression databases
ArrayExpress	Q9H7U1.
Bgee	Q9H7U1.
CleanEx	HS_KIAA1128.
Genevestigator	Q9H7U1.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	FAM190B. human.
GenomeRNAi	54462.
NextBio	56721.

Entry information

Entry name

CCSE2_HUMAN

Accession

Primary (citable) accession number: Q9H7U1
Secondary accession number(s): B4DQU9 , B7WPE8, D3DWE2, Q8N6E9, Q9H2S0, Q9ULU1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	November 13, 2007
Last modified:	April 3, 2013
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.