Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

U3 small nucleolar RNA-associated protein 4 homolog

Gene

UTP4

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

Functioni

May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV. Ribosome biogenesis factor involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b.2 Publications

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • maturation of SSU-rRNA Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • rRNA processing Source: Reactome
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

rRNA processing, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ969X6.

Names & Taxonomyi

Protein namesi
Recommended name:
U3 small nucleolar RNA-associated protein 4 homolog
Alternative name(s):
Cirhin
UTP4 small subunit processome component
Gene namesi
Name:UTP4Imported
Synonyms:CIRH1A, KIAA1988
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:1983. UTP4.

Subcellular locationi

GO - Cellular componenti

  • fibrillar center Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: Reactome
  • t-UTP complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

North American Indian childhood cirrhosis (NAIC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology.
See also OMIM:604901
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti565 – 5651R → W in NAIC; does not affect nucleolar protein location; affects interaction with HIVEP1. 3 Publications
Corresponds to variant rs119465999 [ dbSNP | Ensembl ].
VAR_017445

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiCIRH1A.
MIMi604901. phenotype.
Orphaneti168583. Hereditary North American Indian childhood cirrhosis.
PharmGKBiPA26520.

Polymorphism and mutation databases

BioMutaiCIRH1A.
DMDMi41016916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 686686U3 small nucleolar RNA-associated protein 4 homologPRO_0000050908Add
BLAST

Post-translational modificationi

May be phosphorylated during mitosis; may control the association of this protein with WRD43 and UTP15.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ969X6.
MaxQBiQ969X6.
PaxDbiQ969X6.
PRIDEiQ969X6.

2D gel databases

SWISS-2DPAGEQ969X6.

PTM databases

iPTMnetiQ969X6.
PhosphoSiteiQ969X6.

Expressioni

Gene expression databases

BgeeiQ969X6.
CleanExiHS_CIRH1A.
ExpressionAtlasiQ969X6. baseline and differential.
GenevisibleiQ969X6. HS.

Organism-specific databases

HPAiHPA041139.

Interactioni

Subunit structurei

Interacts with HIVEP1 (PubMed:19732766). Forms a complex with NOL11, UTP15, WDR43 and WDR75; within this complex, directly interacts with NOL11, UTP15 and WDR43 (PubMed:22916032, PubMed:24219289).3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HIVEP1P158223EBI-2602591,EBI-722264

Protein-protein interaction databases

BioGridi124353. 34 interactions.
IntActiQ969X6. 16 interactions.
MINTiMINT-3050326.
STRINGi9606.ENSP00000327179.

Structurei

3D structure databases

ProteinModelPortaliQ969X6.
SMRiQ969X6. Positions 17-265, 286-314.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati7 – 5044WD 1Add
BLAST
Repeati51 – 9242WD 2Add
BLAST
Repeati93 – 13543WD 3Add
BLAST
Repeati136 – 18146WD 4Add
BLAST
Repeati182 – 22645WD 5Add
BLAST
Repeati227 – 27549WD 6Add
BLAST
Repeati276 – 31742WD 7Add
BLAST
Repeati318 – 37760WD 8Add
BLAST
Repeati378 – 42750WD 9Add
BLAST
Repeati428 – 47548WD 10Add
BLAST
Repeati476 – 51641WD 11Add
BLAST
Repeati517 – 56650WD 12Add
BLAST
Repeati567 – 62761WD 13Add
BLAST
Repeati628 – 66639WD 14Add
BLAST

Sequence similaritiesi

Contains 14 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2048. Eukaryota.
ENOG410XQNR. LUCA.
GeneTreeiENSGT00390000008662.
HOVERGENiHBG050963.
InParanoidiQ969X6.
KOiK14548.
PhylomeDBiQ969X6.
TreeFamiTF313159.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 10 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 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: Q969X6-1) [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
MGEFKVHRVR FFNYVPSGIR CVAYNNQSNR LAVSRTDGTV EIYNLSANYF
60 70 80 90 100
QEKFFPGHES RATEALCWAE GQRLFSAGLN GEIMEYDLQA LNIKYAMDAF
110 120 130 140 150
GGPIWSMAAS PSGSQLLVGC EDGSVKLFQI TPDKIQFERN FDRQKSRILS
160 170 180 190 200
LSWHPSGTHI AAGSIDYISV FDVKSGSAVH KMIVDRQYMG VSKRKCIVWG
210 220 230 240 250
VAFLSDGTII SVDSAGKVQF WDSATGTLVK SHLIANADVQ SIAVADQEDS
260 270 280 290 300
FVVGTAEGTV FHFQLVPVTS NSSEKQWVRT KPFQHHTHDV RTVAHSPTAL
310 320 330 340 350
ISGGTDTHLV FRPLMEKVEV KNYDAALRKI TFPHRCLISC SKKRQLLLFQ
360 370 380 390 400
FAHHLELWRL GSTVATGKNG DTLPLSKNAD HLLHLKTKGP ENIICSCISP
410 420 430 440 450
CGSWIAYSTV SRFFLYRLNY EHDNISLKRV SKMPAFLRSA LQILFSEDST
460 470 480 490 500
KLFVASNQGA LHIVQLSGGS FKHLHAFQPQ SGTVEAMCLL AVSPDGNWLA
510 520 530 540 550
ASGTSAGVHV YNVKQLKLHC TVPAYNFPVT AMAIAPNTNN LVIAHSDQQV
560 570 580 590 600
FEYSIPDKQY TDWSRTVQKQ GFHHLWLQRD TPITHISFHP KRPMHILLHD
610 620 630 640 650
AYMFCIIDKS LPLPNDKTLL YNPFPPTNES DVIRRRTAHA FKISKIYKPL
660 670 680
LFMDLLDERT LVAVERPLDD IIAQLPPPIK KKKFGT
Length:686
Mass (Da):76,890
Last modified:December 1, 2001 - v1
Checksum:i595D8B2F47C03299
GO
Isoform 2 (identifier: Q969X6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     368-482: Missing.

Show »
Length:571
Mass (Da):64,119
Checksum:i933667DDFFA4F345
GO
Isoform 3 (identifier: Q969X6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     612-625: PLPNDKTLLYNPFP → VSSSLLPPKSSSES
     626-686: Missing.

Note: May be due to intron retention.
Show »
Length:625
Mass (Da):69,639
Checksum:iC1E06A47C8E5078D
GO

Sequence cautioni

The sequence BAB55100.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB55116.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB55212.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB85574.2 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011G → V in BAB55116 (PubMed:14702039).Curated
Sequence conflicti290 – 2901V → M in BAB55251 (PubMed:14702039).Curated
Sequence conflicti378 – 3781N → S in BAB55100 (PubMed:14702039).Curated
Sequence conflicti419 – 4191N → S in BAC11214 (PubMed:14702039).Curated
Sequence conflicti594 – 5941M → V in BAB55100 (PubMed:14702039).Curated
Sequence conflicti624 – 6241F → L in BAC11214 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti438 – 4381R → H.
Corresponds to variant rs8056684 [ dbSNP | Ensembl ].
VAR_053388
Natural varianti565 – 5651R → W in NAIC; does not affect nucleolar protein location; affects interaction with HIVEP1. 3 Publications
Corresponds to variant rs119465999 [ dbSNP | Ensembl ].
VAR_017445

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei368 – 482115Missing in isoform 2. 1 PublicationVSP_009201Add
BLAST
Alternative sequencei612 – 62514PLPND…YNPFP → VSSSLLPPKSSSES in isoform 3. 2 PublicationsVSP_009202Add
BLAST
Alternative sequencei626 – 68661Missing in isoform 3. 2 PublicationsVSP_009203Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075868 mRNA. Translation: BAB85574.2. Different initiation.
AK027419 mRNA. Translation: BAB55100.1. Different initiation.
AK027445 mRNA. Translation: BAB55116.1. Different initiation.
AK027584 mRNA. Translation: BAB55212.1. Different initiation.
AK027634 mRNA. Translation: BAB55251.1.
AK027675 mRNA. Translation: BAB55287.1.
AK074795 mRNA. Translation: BAC11214.1.
BC000167 mRNA. Translation: AAH00167.1.
BC009348 mRNA. Translation: AAH09348.1.
CCDSiCCDS10872.1. [Q969X6-1]
RefSeqiNP_116219.2. NM_032830.2. [Q969X6-1]
UniGeneiHs.461113.

Genome annotation databases

EnsembliENST00000314423; ENSP00000327179; ENSG00000141076. [Q969X6-1]
ENST00000352319; ENSP00000339164; ENSG00000141076. [Q969X6-2]
ENST00000563094; ENSP00000456622; ENSG00000141076. [Q969X6-3]
ENST00000575702; ENSP00000458843; ENSG00000262788.
GeneIDi84916.
KEGGihsa:84916.
UCSCiuc002ewr.3. human. [Q969X6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075868 mRNA. Translation: BAB85574.2. Different initiation.
AK027419 mRNA. Translation: BAB55100.1. Different initiation.
AK027445 mRNA. Translation: BAB55116.1. Different initiation.
AK027584 mRNA. Translation: BAB55212.1. Different initiation.
AK027634 mRNA. Translation: BAB55251.1.
AK027675 mRNA. Translation: BAB55287.1.
AK074795 mRNA. Translation: BAC11214.1.
BC000167 mRNA. Translation: AAH00167.1.
BC009348 mRNA. Translation: AAH09348.1.
CCDSiCCDS10872.1. [Q969X6-1]
RefSeqiNP_116219.2. NM_032830.2. [Q969X6-1]
UniGeneiHs.461113.

3D structure databases

ProteinModelPortaliQ969X6.
SMRiQ969X6. Positions 17-265, 286-314.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124353. 34 interactions.
IntActiQ969X6. 16 interactions.
MINTiMINT-3050326.
STRINGi9606.ENSP00000327179.

PTM databases

iPTMnetiQ969X6.
PhosphoSiteiQ969X6.

Polymorphism and mutation databases

BioMutaiCIRH1A.
DMDMi41016916.

2D gel databases

SWISS-2DPAGEQ969X6.

Proteomic databases

EPDiQ969X6.
MaxQBiQ969X6.
PaxDbiQ969X6.
PRIDEiQ969X6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314423; ENSP00000327179; ENSG00000141076. [Q969X6-1]
ENST00000352319; ENSP00000339164; ENSG00000141076. [Q969X6-2]
ENST00000563094; ENSP00000456622; ENSG00000141076. [Q969X6-3]
ENST00000575702; ENSP00000458843; ENSG00000262788.
GeneIDi84916.
KEGGihsa:84916.
UCSCiuc002ewr.3. human. [Q969X6-1]

Organism-specific databases

CTDi84916.
GeneCardsiCIRH1A.
HGNCiHGNC:1983. UTP4.
HPAiHPA041139.
MalaCardsiCIRH1A.
MIMi604901. phenotype.
607456. gene.
neXtProtiNX_Q969X6.
Orphaneti168583. Hereditary North American Indian childhood cirrhosis.
PharmGKBiPA26520.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2048. Eukaryota.
ENOG410XQNR. LUCA.
GeneTreeiENSGT00390000008662.
HOVERGENiHBG050963.
InParanoidiQ969X6.
KOiK14548.
PhylomeDBiQ969X6.
TreeFamiTF313159.

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ969X6.

Miscellaneous databases

ChiTaRSiCIRH1A. human.
GeneWikiiCIRH1A.
GenomeRNAii84916.
PROiQ969X6.
SOURCEiSearch...

Gene expression databases

BgeeiQ969X6.
CleanExiHS_CIRH1A.
ExpressionAtlasiQ969X6. baseline and differential.
GenevisibleiQ969X6. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 10 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    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.
    , 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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 95-686 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 444-686 (ISOFORM 3).
  3. "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: Muscle and Placenta.
  4. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis."
    Yu B., Mitchell G.A., Richter A.
    Exp. Cell Res. 311:218-228(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NAIC TRP-565.
  6. "Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1."
    Yu B., Mitchell G.A., Richter A.
    Exp. Cell Res. 315:3086-3098(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH HIVEP1, CHARACTERIZATION OF VARIANT NAIC TRP-565.
  7. "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing."
    Freed E.F., Prieto J.L., McCann K.L., McStay B., Baserga S.J.
    PLoS Genet. 8:E1002892-E1002892(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NOL11, IDENTIFICATION IN COMPLEX WITH NOL11; UTP15; WDR43 AND WDR75.
  8. "Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex."
    Sato M., Araki N., Kumeta M., Takeyasu K., Taguchi Y., Asai T., Furukawa K., Horigome T.
    Biochem. Cell Biol. 91:466-475(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH UTP15 AND WDR43, IDENTIFICATION BY MASS SPECTROMETRY.
  9. "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis."
    Chagnon P., Michaud J., Mitchell G., Mercier J., Marion J.-F., Drouin E., Rasquin-Weber A., Hudson T.J., Richter A.
    Am. J. Hum. Genet. 71:1443-1449(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NAIC TRP-565.

Entry informationi

Entry nameiUTP4_HUMAN
AccessioniPrimary (citable) accession number: Q969X6
Secondary accession number(s): Q8NCD9
, Q8TF14, Q96SP0, Q96SR9, Q96SZ9, Q96T13, Q9BWK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 139 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. 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.