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Protein

Ankyrin repeat domain-containing protein 50

Gene

ANKRD50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).

GO - Biological processi

  • intracellular protein transport Source: GO_Central
  • retrograde transport, endosome to plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151458-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 50
Gene namesi
Name:ANKRD50
Synonyms:KIAA1223
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:29223. ANKRD50.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000151458.
PharmGKBiPA128394695.

Polymorphism and mutation databases

BioMutaiANKRD50.
DMDMi254763437.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669201 – 1429Ankyrin repeat domain-containing protein 50Add BLAST1429

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1165PhosphoserineCombined sources1
Modified residuei1167PhosphoserineCombined sources1
Modified residuei1222PhosphoserineCombined sources1
Modified residuei1400PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULJ7.
PaxDbiQ9ULJ7.
PeptideAtlasiQ9ULJ7.
PRIDEiQ9ULJ7.

PTM databases

iPTMnetiQ9ULJ7.
PhosphoSitePlusiQ9ULJ7.

Expressioni

Gene expression databases

BgeeiENSG00000151458.
CleanExiHS_ANKRD50.
GenevisibleiQ9ULJ7. HS.

Organism-specific databases

HPAiHPA044008.

Interactioni

Subunit structurei

Interacts with VPS35 (PubMed:25278552).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
P299914EBI-5653671,EBI-8826747From a different organism.

Protein-protein interaction databases

BioGridi121431. 8 interactors.
DIPiDIP-47302N.
IntActiQ9ULJ7. 9 interactors.
STRINGi9606.ENSP00000425658.

Structurei

3D structure databases

ProteinModelPortaliQ9ULJ7.
SMRiQ9ULJ7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati477 – 509ANK 1Add BLAST33
Repeati511 – 540ANK 2Add BLAST30
Repeati544 – 573ANK 3Add BLAST30
Repeati577 – 606ANK 4Add BLAST30
Repeati610 – 639ANK 5Add BLAST30
Repeati643 – 672ANK 6Add BLAST30
Repeati676 – 705ANK 7Add BLAST30
Repeati709 – 743ANK 8Add BLAST35
Repeati747 – 776ANK 9Add BLAST30
Repeati780 – 809ANK 10Add BLAST30
Repeati813 – 842ANK 11Add BLAST30
Repeati846 – 875ANK 12Add BLAST30
Repeati879 – 908ANK 13Add BLAST30
Repeati912 – 941ANK 14Add BLAST30
Repeati945 – 974ANK 15Add BLAST30
Repeati978 – 1007ANK 16Add BLAST30
Repeati1011 – 1040ANK 17Add BLAST30
Repeati1044 – 1073ANK 18Add BLAST30
Repeati1077 – 1107ANK 19Add BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1123 – 1292Ser-richAdd BLAST170

Sequence similaritiesi

Contains 19 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129677.
HOGENOMiHOG000168267.
HOVERGENiHBG102490.
InParanoidiQ9ULJ7.
OMAiYIVKDVQ.
OrthoDBiEOG091G01EB.
PhylomeDBiQ9ULJ7.
TreeFamiTF323159.

Family and domain databases

Gene3Di1.25.40.20. 6 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 2 hits.
PF12796. Ank_2. 4 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 17 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 17 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULJ7-1) [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
MTNPWEEKVC KMAQTSLLQG KQFYCREWVF HKLQHCLQEK SNCCNSAVNA
60 70 80 90 100
PSLVMNSGNN ASGVSGKGAA WGVLLVGGPG SGKTALCTEL LWPSSPASLQ
110 120 130 140 150
RGLHRQALAF HFCKAQDSDT LCVGGFIRGL VAQICRSGLL QGYEDKLRDP
160 170 180 190 200
AVQSLLQPGE CERNPAEAFK RCVLLPLLGM KPPQQSLYLL VDSVDEGCNI
210 220 230 240 250
TEGEQTSTSL SGTVAALLAG HHEFFPPWLL LLCSARKQSK AVTKMFTGFR
260 270 280 290 300
KISLDDLRKA YIVKDVQQYI LHRLDQEEAL RQHLTKETAE MLNQLHIKSS
310 320 330 340 350
GCFLYLERVL DGVVENFIML REIRDIPGTL NGLYLWLCQR LFVRKQFAKV
360 370 380 390 400
QPILNVILAA CRPLTITELY HAVWTKNMSL TLEDFQRKLD ILSKLLVDGL
410 420 430 440 450
GNTKILFHYS FAEWLLDVKH CTQKYLCNAA EGHRMLAMSY TCQAKNLTPL
460 470 480 490 500
EAQEFALHLI NSNLQLETAE LALWMIWNGT PVRDSLSTLI PKEQEVLQLL
510 520 530 540 550
VKAGAHVNSE DDRTSCIVRQ ALEREDSIRT LLDNGASVNQ CDSNGRTLLA
560 570 580 590 600
NAAYSGSLDV VNLLVSRGAD LEIEDAHGHT PLTLAARQGH TKVVNCLIGC
610 620 630 640 650
GANINHTDQD GWTALRSAAW GGHTEVVSAL LYAGVKVDCA DADSRTALRA
660 670 680 690 700
AAWGGHEDIV LNLLQHGAEV NKADNEGRTA LIAAAYMGHR EIVEHLLDHG
710 720 730 740 750
AEVNHEDVDG RTALSVAALC VPASKGHASV VSLLIDRGAE VDHCDKDGMT
760 770 780 790 800
PLLVAAYEGH VDVVDLLLEG GADVDHTDNN GRTPLLAAAS MGHASVVNTL
810 820 830 840 850
LFWGAAVDSI DSEGRTVLSI ASAQGNVEVV RTLLDRGLDE NHRDDAGWTP
860 870 880 890 900
LHMAAFEGHR LICEALIEQG ARTNEIDNDG RIPFILASQE GHYDCVQILL
910 920 930 940 950
ENKSNIDQRG YDGRNALRVA ALEGHRDIVE LLFSHGADVN CKDADGRPTL
960 970 980 990 1000
YILALENQLT MAEYFLENGA NVEASDAEGR TALHVSCWQG HMEMVQVLIA
1010 1020 1030 1040 1050
YHADVNAADN EKRSALQSAA WQGHVKVVQL LIEHGAVVDH TCNQGATALC
1060 1070 1080 1090 1100
IAAQEGHIDV VQVLLEHGAD PNHADQFGRT AMRVAAKNGH SQIIKLLEKY
1110 1120 1130 1140 1150
GASSLNGCSP SPVHTMEQKP LQSLSSKVQS LTIKSNSSGS TGGGDMQPSL
1160 1170 1180 1190 1200
RGLPNGPTHA FSSPSESPDS TVDRQKSSLS NNSLKSSKNS SLRTTSSTAT
1210 1220 1230 1240 1250
AQTVPIDSFH NLSFTEQIQQ HSLPRSRSRQ SIVSPSSTTQ SLGQSHNSPS
1260 1270 1280 1290 1300
SEFEWSQVKP SLKSTKASKG GKSENSAKSG SAGKKAKQSN SSQPKVLEYE
1310 1320 1330 1340 1350
MTQFDRRGPI AKSGTAAPPK QMPAESQCKI MIPSAQQEIG RSQQQFLIHQ
1360 1370 1380 1390 1400
QSGEQKKRNG IMTNPNYHLQ SNQVFLGRVS VPRTMQDRGH QEVLEGYPSS
1410 1420
ETELSLKQAL KLQIEGSDPS FNYKKETPL
Length:1,429
Mass (Da):155,859
Last modified:July 28, 2009 - v4
Checksum:i4B5403A8433147C2
GO
Isoform 2 (identifier: Q9ULJ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-179: Missing.

Note: No experimental confirmation available.
Show »
Length:1,250
Mass (Da):136,500
Checksum:iF547918C279FCE96
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45N → D in BAF83757 (PubMed:14702039).Curated1
Sequence conflicti281R → Q in CAE45806 (PubMed:17974005).Curated1
Sequence conflicti647A → V in BAA86537 (PubMed:10574462).Curated1
Sequence conflicti656H → R in BAC87007 (PubMed:14702039).Curated1
Sequence conflicti1043N → D in BAG58158 (PubMed:14702039).Curated1
Sequence conflicti1111S → P in BAF83757 (PubMed:14702039).Curated1
Sequence conflicti1362M → I in BAF83757 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0454591 – 179Missing in isoform 2. 1 PublicationAdd BLAST179

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK127496 mRNA. Translation: BAC87007.1.
AK291068 mRNA. Translation: BAF83757.1.
AK295135 mRNA. Translation: BAG58158.1.
AC105421 Genomic DNA. No translation available.
BX640674 mRNA. Translation: CAE45806.1.
AB033049 mRNA. Translation: BAA86537.2.
CCDSiCCDS34060.1. [Q9ULJ7-1]
CCDS54802.1. [Q9ULJ7-2]
RefSeqiNP_001161354.1. NM_001167882.1. [Q9ULJ7-2]
NP_065070.1. NM_020337.2. [Q9ULJ7-1]
XP_016863960.1. XM_017008471.1. [Q9ULJ7-1]
UniGeneiHs.480694.

Genome annotation databases

EnsembliENST00000504087; ENSP00000425658; ENSG00000151458. [Q9ULJ7-1]
ENST00000515641; ENSP00000425355; ENSG00000151458. [Q9ULJ7-2]
GeneIDi57182.
KEGGihsa:57182.
UCSCiuc010inw.4. human. [Q9ULJ7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK127496 mRNA. Translation: BAC87007.1.
AK291068 mRNA. Translation: BAF83757.1.
AK295135 mRNA. Translation: BAG58158.1.
AC105421 Genomic DNA. No translation available.
BX640674 mRNA. Translation: CAE45806.1.
AB033049 mRNA. Translation: BAA86537.2.
CCDSiCCDS34060.1. [Q9ULJ7-1]
CCDS54802.1. [Q9ULJ7-2]
RefSeqiNP_001161354.1. NM_001167882.1. [Q9ULJ7-2]
NP_065070.1. NM_020337.2. [Q9ULJ7-1]
XP_016863960.1. XM_017008471.1. [Q9ULJ7-1]
UniGeneiHs.480694.

3D structure databases

ProteinModelPortaliQ9ULJ7.
SMRiQ9ULJ7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121431. 8 interactors.
DIPiDIP-47302N.
IntActiQ9ULJ7. 9 interactors.
STRINGi9606.ENSP00000425658.

PTM databases

iPTMnetiQ9ULJ7.
PhosphoSitePlusiQ9ULJ7.

Polymorphism and mutation databases

BioMutaiANKRD50.
DMDMi254763437.

Proteomic databases

EPDiQ9ULJ7.
PaxDbiQ9ULJ7.
PeptideAtlasiQ9ULJ7.
PRIDEiQ9ULJ7.

Protocols and materials databases

DNASUi57182.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000504087; ENSP00000425658; ENSG00000151458. [Q9ULJ7-1]
ENST00000515641; ENSP00000425355; ENSG00000151458. [Q9ULJ7-2]
GeneIDi57182.
KEGGihsa:57182.
UCSCiuc010inw.4. human. [Q9ULJ7-1]

Organism-specific databases

CTDi57182.
GeneCardsiANKRD50.
H-InvDBHIX0004487.
HGNCiHGNC:29223. ANKRD50.
HPAiHPA044008.
neXtProtiNX_Q9ULJ7.
OpenTargetsiENSG00000151458.
PharmGKBiPA128394695.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129677.
HOGENOMiHOG000168267.
HOVERGENiHBG102490.
InParanoidiQ9ULJ7.
OMAiYIVKDVQ.
OrthoDBiEOG091G01EB.
PhylomeDBiQ9ULJ7.
TreeFamiTF323159.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151458-MONOMER.

Miscellaneous databases

ChiTaRSiANKRD50. human.
GenomeRNAii57182.
PROiQ9ULJ7.

Gene expression databases

BgeeiENSG00000151458.
CleanExiHS_ANKRD50.
GenevisibleiQ9ULJ7. HS.

Family and domain databases

Gene3Di1.25.40.20. 6 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 2 hits.
PF12796. Ank_2. 4 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 17 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 17 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANR50_HUMAN
AccessioniPrimary (citable) accession number: Q9ULJ7
Secondary accession number(s): A8K4V3
, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: July 28, 2009
Last modified: November 30, 2016
This is version 133 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. 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.