SCGR9_HUMAN
ID SCGR9_HUMAN Reviewed; 92 AA.
AC P0DSO2;
DT 12-AUG-2020, integrated into UniProtKB/Swiss-Prot.
DT 12-AUG-2020, sequence version 1.
DT 25-MAY-2022, entry version 6.
DE RecName: Full=Small cysteine and glycine repeat-containing protein 9 {ECO:0000305};
DE AltName: Full=Keratin-associated protein 28-1 pseudogene {ECO:0000303|PubMed:18721477};
GN Name=SCYGR9 {ECO:0000312|HGNC:HGNC:34219};
GN Synonyms=KRTAP28p1 {ECO:0000303|PubMed:18721477};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP FAMILY CHARACTERIZATION.
RX PubMed=18721477; DOI=10.1186/1471-2148-8-241;
RA Wu D.D., Irwin D.M., Zhang Y.P.;
RT "Molecular evolution of the keratin associated protein gene family in
RT mammals, role in the evolution of mammalian hair.";
RL BMC Evol. Biol. 8:241-241(2008).
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated proteins (KRTAP), which are essential for the formation of a
CC rigid and resistant hair shaft through their extensive disulfide bond
CC cross-linking with abundant cysteine residues of hair keratins. The
CC matrix proteins include the high-sulfur and high-glycine-tyrosine
CC keratins. {ECO:0000305}.
CC -!- POLYMORPHISM: The most frequent variant has a stop codon instead of
CC Cys-15, giving rise to a truncated protein and is represented on the
CC reference genome assembly (GRCh38/hg38). The variant Cys-15 is rare,
CC except in some populations from Africa and non-Finnish Europa. The
CC sequence shown is rare and is not represented on the reference genome
CC assembly (GRCh38/hg38). {ECO:0000305}.
CC -!- MISCELLANEOUS: Human have a similar number of genes as other primates
CC despite the relative hairlessness of humans.
CC {ECO:0000303|PubMed:18721477}.
CC -!- SIMILARITY: Belongs to the KRTAP type 28 family.
CC {ECO:0000305|PubMed:18721477}.
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DR EMBL; AC064853; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; P0DSO2; -.
DR MassIVE; P0DSO2; -.
DR PeptideAtlas; P0DSO2; -.
DR GeneCards; SCYGR9; -.
DR HGNC; HGNC:34219; SCYGR9.
DR neXtProt; NX_P0DSO2; -.
DR PRO; PR:P0DSO2; -.
DR Proteomes; UP000005640; Unplaced.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..92
FT /note="Small cysteine and glycine repeat-containing protein
FT 9"
FT /id="PRO_0000450447"
FT REGION 4..72
FT /note="11 X 2 AA repeats of CG"
FT VARIANT 15..92
FT /note="Missing (in dbSNP:rs887960028)"
FT /id="VAR_083574"
SQ SEQUENCE 92 AA; 8766 MW; E535D744E91FBF61 CRC64;
MGCCGCGSCG CSGGCGGGCG GGCGGGCGSC TTCRCYRVGC CSSCCPCCRG CCGGCCSTPV
ICCCRRTCSS CGCGCGKGCC QQKSCCQKQC CC