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Protein

Hyccin

Gene

FAM126A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns4P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns4P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable).1 Publication2 Publications

GO - Molecular functioni

  • signal transducer activity Source: UniProtKB

GO - Biological processi

  • establishment of protein localization to plasma membrane Source: UniProtKB
  • myelination Source: UniProtKB
  • phosphatidylinositol phosphorylation Source: UniProtKB
  • signal transduction Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Hyccin1 Publication
Alternative name(s):
Down-regulated by CTNNB1 protein A1 Publication
Protein FAM126ACurated
Gene namesi
Name:FAM126A
Synonyms:DRCTNNB1A1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:24587. FAM126A.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, hypomyelinating, 5 (HLD5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.
See also OMIM:610532
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications
VAR_030647
Natural varianti57 – 571C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications
VAR_075100

Keywords - Diseasei

Cataract, Disease mutation, Leukodystrophy

Organism-specific databases

MalaCardsiFAM126A.
MIMi610532. phenotype.
Orphaneti85163. Hypomyelination - congenital cataract.
PharmGKBiPA162385852.

Polymorphism and mutation databases

BioMutaiFAM126A.
DMDMi77416421.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 521521HyccinPRO_0000080005Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei321 – 3211PhosphoserineBy similarity
Modified residuei415 – 4151PhosphoserineBy similarity
Modified residuei453 – 4531PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BYI3.
MaxQBiQ9BYI3.
PaxDbiQ9BYI3.
PRIDEiQ9BYI3.

PTM databases

iPTMnetiQ9BYI3.
PhosphoSiteiQ9BYI3.

Expressioni

Tissue specificityi

Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.1 Publication

Inductioni

Down-regulated by beta-catenin.1 Publication

Gene expression databases

BgeeiQ9BYI3.
CleanExiHS_FAM126A.
ExpressionAtlasiQ9BYI3. baseline and differential.
GenevisibleiQ9BYI3. HS.

Organism-specific databases

HPAiHPA042873.

Interactioni

Subunit structurei

Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct (PubMed:26571211).1 Publication

Protein-protein interaction databases

BioGridi124188. 10 interactions.
IntActiQ9BYI3. 1 interaction.
STRINGi9606.ENSP00000403396.

Structurei

Secondary structure

1
521
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi8 – 147Combined sources
Turni26 – 283Combined sources
Helixi37 – 4610Combined sources
Helixi54 – 6512Combined sources
Helixi69 – 768Combined sources
Helixi79 – 9113Combined sources
Helixi100 – 11213Combined sources
Beta strandi116 – 1194Combined sources
Beta strandi123 – 1264Combined sources
Helixi144 – 1474Combined sources
Beta strandi159 – 1635Combined sources
Helixi176 – 19015Combined sources
Helixi197 – 21216Combined sources
Helixi217 – 2215Combined sources
Helixi234 – 24815Combined sources
Turni249 – 2513Combined sources
Helixi253 – 26917Combined sources
Helixi273 – 28513Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5DSEX-ray2.90B/D2-308[»]
ProteinModelPortaliQ9BYI3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM126 family.Curated

Phylogenomic databases

eggNOGiKOG4688. Eukaryota.
ENOG410ZXRB. LUCA.
GeneTreeiENSGT00390000011295.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ9BYI3.
OMAiRICSRIC.
OrthoDBiEOG751NF5.
PhylomeDBiQ9BYI3.
TreeFamiTF317153.

Family and domain databases

InterProiIPR018619. Hyccin.
[Graphical view]
PfamiPF09790. Hyccin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYI3-1) [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
MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS
60 70 80 90 100
ELLEPVCHQL FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC
110 120 130 140 150
IEALLLGVYN LEIVDKQGHT KVLSFTIPSL SKPSVYHEPS SIGSMALTES
160 170 180 190 200
ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL
210 220 230 240 250
QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM LTGIYFAFYN
260 270 280 290 300
GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC
310 320 330 340 350
IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG
360 370 380 390 400
FYSRAASSTS QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES
410 420 430 440 450
CKDHFARKQT QRAQSENLEL LSLKRLTLTT SQSLPKPSSH GLAKTAATVF
460 470 480 490 500
SKSFEQVSGV TVPHNPSSAV GCGAGTDANR FSACSLQEEK LIYVSERTEL
510 520
PMKHQSGQQR PPSISITLST D
Length:521
Mass (Da):57,625
Last modified:October 11, 2005 - v2
Checksum:i722D7A9CFD5EC060
GO
Isoform 2 (identifier: Q9BYI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-341: Missing.

Note: No experimental confirmation available.
Show »
Length:180
Mass (Da):19,260
Checksum:i0BC46A565DE030A3
GO
Isoform 3 (identifier: Q9BYI3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-419: GNTELTGQEE...TQRAQSENLE → EQPDNNNDAT...GINSPGRVQF
     420-521: Missing.

Show »
Length:419
Mass (Da):46,920
Checksum:i9234130AF975A821
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti160 – 1601V → A in BAB39849 (PubMed:10910037).Curated
Sequence conflicti194 – 1941Y → C in BAB39849 (PubMed:10910037).Curated
Sequence conflicti474 – 4741A → V in CAE45864 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531L → P in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications
VAR_030647
Natural varianti57 – 571C → R in HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex. 2 Publications
VAR_075100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 341341Missing in isoform 2. 1 PublicationVSP_023126Add
BLAST
Alternative sequencei331 – 41989GNTEL…SENLE → EQPDNNNDATELGILVIPEI SVTNVAGERTGNGEKGRTLG EIDAQHIQGVQETATDPRTE SKGLPEIRRQKSVRKMMEDG INSPGRVQF in isoform 3. VSP_058128Add
BLAST
Alternative sequencei420 – 521102Missing in isoform 3. VSP_058129Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030241 mRNA. Translation: BAB39849.1.
KU178808 mRNA. Translation: ALQ34266.1.
KU178809 mRNA. Translation: ALQ34267.1.
AK056319 mRNA. Translation: BAB71148.1.
AK054887 mRNA. Translation: BAB70823.1.
AC005682 Genomic DNA. Translation: AAS01991.1.
AC006039 Genomic DNA. Translation: AAS07519.1.
CH236948 Genomic DNA. Translation: EAL24262.1.
CH471073 Genomic DNA. Translation: EAW93767.1.
CH471073 Genomic DNA. Translation: EAW93768.1.
BC018710 mRNA. Translation: AAH18710.1.
BX640757 mRNA. Translation: CAE45864.1.
CCDSiCCDS5377.1. [Q9BYI3-1]
RefSeqiNP_115970.2. NM_032581.3. [Q9BYI3-1]
XP_005249951.1. XM_005249894.3. [Q9BYI3-3]
XP_011513891.1. XM_011515589.1. [Q9BYI3-1]
UniGeneiHs.85603.

Genome annotation databases

EnsembliENST00000409923; ENSP00000386246; ENSG00000122591. [Q9BYI3-3]
ENST00000432176; ENSP00000403396; ENSG00000122591. [Q9BYI3-1]
GeneIDi84668.
KEGGihsa:84668.
UCSCiuc003svm.5. human. [Q9BYI3-1]
uc064byk.1. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030241 mRNA. Translation: BAB39849.1.
KU178808 mRNA. Translation: ALQ34266.1.
KU178809 mRNA. Translation: ALQ34267.1.
AK056319 mRNA. Translation: BAB71148.1.
AK054887 mRNA. Translation: BAB70823.1.
AC005682 Genomic DNA. Translation: AAS01991.1.
AC006039 Genomic DNA. Translation: AAS07519.1.
CH236948 Genomic DNA. Translation: EAL24262.1.
CH471073 Genomic DNA. Translation: EAW93767.1.
CH471073 Genomic DNA. Translation: EAW93768.1.
BC018710 mRNA. Translation: AAH18710.1.
BX640757 mRNA. Translation: CAE45864.1.
CCDSiCCDS5377.1. [Q9BYI3-1]
RefSeqiNP_115970.2. NM_032581.3. [Q9BYI3-1]
XP_005249951.1. XM_005249894.3. [Q9BYI3-3]
XP_011513891.1. XM_011515589.1. [Q9BYI3-1]
UniGeneiHs.85603.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5DSEX-ray2.90B/D2-308[»]
ProteinModelPortaliQ9BYI3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124188. 10 interactions.
IntActiQ9BYI3. 1 interaction.
STRINGi9606.ENSP00000403396.

PTM databases

iPTMnetiQ9BYI3.
PhosphoSiteiQ9BYI3.

Polymorphism and mutation databases

BioMutaiFAM126A.
DMDMi77416421.

Proteomic databases

EPDiQ9BYI3.
MaxQBiQ9BYI3.
PaxDbiQ9BYI3.
PRIDEiQ9BYI3.

Protocols and materials databases

DNASUi84668.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409923; ENSP00000386246; ENSG00000122591. [Q9BYI3-3]
ENST00000432176; ENSP00000403396; ENSG00000122591. [Q9BYI3-1]
GeneIDi84668.
KEGGihsa:84668.
UCSCiuc003svm.5. human. [Q9BYI3-1]
uc064byk.1. human.

Organism-specific databases

CTDi84668.
GeneCardsiFAM126A.
GeneReviewsiFAM126A.
HGNCiHGNC:24587. FAM126A.
HPAiHPA042873.
MalaCardsiFAM126A.
MIMi610531. gene.
610532. phenotype.
neXtProtiNX_Q9BYI3.
Orphaneti85163. Hypomyelination - congenital cataract.
PharmGKBiPA162385852.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4688. Eukaryota.
ENOG410ZXRB. LUCA.
GeneTreeiENSGT00390000011295.
HOGENOMiHOG000252938.
HOVERGENiHBG057270.
InParanoidiQ9BYI3.
OMAiRICSRIC.
OrthoDBiEOG751NF5.
PhylomeDBiQ9BYI3.
TreeFamiTF317153.

Miscellaneous databases

ChiTaRSiFAM126A. human.
GenomeRNAii84668.
PROiQ9BYI3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BYI3.
CleanExiHS_FAM126A.
ExpressionAtlasiQ9BYI3. baseline and differential.
GenevisibleiQ9BYI3. HS.

Family and domain databases

InterProiIPR018619. Hyccin.
[Graphical view]
PfamiPF09790. Hyccin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin."
    Kawasoe T., Furukawa Y., Daigo Y., Nishiwaki T., Ishiguro H., Fujita M., Satoh S., Miwa N., Nagasawa Y., Miyoshi Y., Ogawa M., Nakamura Y.
    Cancer Res. 60:3354-3358(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POSSIBLE FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
    Tissue: Fetal brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
  3. "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 1).
    Tissue: Teratocarcinoma.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. "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.
    , 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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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.
    , 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].
  8. "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).
    Tissue: Placenta.
  9. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-453, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: INVOLVEMENT IN HLD5.
  11. Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 12-271 IN COMPLEX WITH TTC7B, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TTC7B, IDENTIFICATION IN THE PI4K COMPLEX, CHARACTERIZATION OF VARIANTS HLD5 PRO-53 AND ARG-57.
  12. Cited for: VARIANT HLD5 PRO-53, FUNCTION, SUBCELLULAR LOCATION.
  13. Cited for: VARIANT HLD5 ARG-57.

Entry informationi

Entry nameiHYCCI_HUMAN
AccessioniPrimary (citable) accession number: Q9BYI3
Secondary accession number(s): A0A024RA06
, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: June 8, 2016
This is version 103 of the entry and version 2 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

Keywords - Technical termi

3D-structure, 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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.