Reviewed, UniProtKB/Swiss-Prot A6NC57 (ANR62_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 62

Gene names

Name:

ANKRD62

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	903 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities	Belongs to the UPF0634 family. Contains 5 ANK repeats.
Sequence caution	The sequence BX649021 differs from that shown. Reason: Erroneous termination at position 544. Translated as Trp.

Ontologies

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A6NC57-1)

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: A6NC57-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-264: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 903	903	Ankyrin repeat domain-containing protein 62		PRO_0000328818
Regions
	Repeat	57 – 86	30	ANK 1
	Repeat	90 – 119	30	ANK 2
	Repeat	123 – 152	30	ANK 3
	Repeat	156 – 185	30	ANK 4
	Repeat	189 – 218	30	ANK 5
	Coiled coil	425 – 655	231	Potential
	Coiled coil	764 – 892	129	Potential
Natural variations
	Alternative sequence	1 – 264	264	Missing in isoform 2.		VSP_032799
	Natural variant	174	1	A → S: dbSNP rs1986751.		VAR_042527
	Natural variant	251	1	C → R: dbSNP rs6505715.		VAR_042528
	Natural variant	392	1	E → K: dbSNP rs4519391. Ref.1		VAR_042529
	Natural variant	599	1	A → T: dbSNP rs7243248. Ref.1		VAR_042530
Experimental info
	Sequence conflict	277	1	C → R in BX649021. Ref.1
	Sequence conflict	369	1	S → P in BX649021. Ref.1
	Sequence conflict	420	1	D → G in BX649021. Ref.1
	Sequence conflict	467	1	L → H in BX649021. Ref.1
	Sequence conflict	585	1	N → S in BX649021. Ref.1
	Sequence conflict	652	1	D → G in BX649021. Ref.1
	Sequence conflict	815	1	N → D in BX649021. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 3. Checksum: 65E794B59556F6C0	FASTA	903	104,812
	10 20 30 40 50 60 MATWRKNRDK DGFSNPGYRV RQKDLGMIHK AAIAGDVNKV MESILLRLND LNDRDKKNRT 70 80 90 100 110 120 ALLLACAHGR PGVVADLVAR KCQLNLTDSE NRTALIKAVQ CQEEVCASIL LEHGANPNVR 130 140 150 160 170 180 DMYGNTALHY AIDNENISMA RKLLAYGADI EARSQDGHTS LLLAVNRKKE QMVAFLLKKK 190 200 210 220 230 240 PDLTAIDNFG RTALILAARN GSTSVVYQLL QHNIDVFCQD ISGWTAEDYA VASKFQAIRG 250 260 270 280 290 300 MISEYKANKR CKSLQNSNSE QDLEMTSEGE QERLEGCESS QPQVEEKMKK CRNKKMEVSR 310 320 330 340 350 360 NVHADDSDNY NDDVDELIHK IKNRKPDNHQ SPGKENGEFD RLARKTSNEK SKVKSQIYFT 370 380 390 400 410 420 DDLNDISGSS EKTSEDDELP YSDDENFMLL IEQSGMECKD FVSLSKSKNA TAACGRSIED 430 440 450 460 470 480 QKCYCERLKV KFQKMKNNIS VLQKVLSETD KTKSQSEHQN LQGKKKLCNL RFILQQQEEE 490 500 510 520 530 540 RIKAEELYEK DIEELKIMEE QYRTQTEVKK QSKLTLKSLE VELKTVRSNS NQNFHTHERE 550 560 570 580 590 600 RDLWQENHLM RDEIARLRLE IDTIKHQNQE TENKYFKDIE IIKENNEDLE KTLKRNEEAL 610 620 630 640 650 660 TKTITRYSKE LNVLMDENTM LNSELQKEKQ SMSRLETEME SYRCRLAAAL CDHDQRQSSK 670 680 690 700 710 720 RDLQLAFQST VNEWCHLQED TNSHIQILSQ QLSKAESTSS GLETELHYER EALKEKTLHI 730 740 750 760 770 780 EHMQGVLSRT QRRLEDIEHM YQNDQPILEK YVRKQQSVED GLFQLQSQNL LYQQQCNDAR 790 800 810 820 830 840 KKADNQEKTI INIQVKCEDT VEKLQAECRK LEENNKGLMK ECTLLKERQC QYEKEKEERE 850 860 870 880 890 900 VVRRQLQREV DDALNKQLLL EAMLEISSER RINLEDEAQS LKKKLGQMRS QVCMKLSMST VTL
	Isoform 2. Checksum: FC551184EC6CCF65	FASTA	639	75,410
	10 20 30 40 50 60 MTSEGEQERL EGCESSQPQV EEKMKKCRNK KMEVSRNVHA DDSDNYNDDV DELIHKIKNR 70 80 90 100 110 120 KPDNHQSPGK ENGEFDRLAR KTSNEKSKVK SQIYFTDDLN DISGSSEKTS EDDELPYSDD 130 140 150 160 170 180 ENFMLLIEQS GMECKDFVSL SKSKNATAAC GRSIEDQKCY CERLKVKFQK MKNNISVLQK 190 200 210 220 230 240 VLSETDKTKS QSEHQNLQGK KKLCNLRFIL QQQEEERIKA EELYEKDIEE LKIMEEQYRT 250 260 270 280 290 300 QTEVKKQSKL TLKSLEVELK TVRSNSNQNF HTHERERDLW QENHLMRDEI ARLRLEIDTI 310 320 330 340 350 360 KHQNQETENK YFKDIEIIKE NNEDLEKTLK RNEEALTKTI TRYSKELNVL MDENTMLNSE 370 380 390 400 410 420 LQKEKQSMSR LETEMESYRC RLAAALCDHD QRQSSKRDLQ LAFQSTVNEW CHLQEDTNSH 430 440 450 460 470 480 IQILSQQLSK AESTSSGLET ELHYEREALK EKTLHIEHMQ GVLSRTQRRL EDIEHMYQND 490 500 510 520 530 540 QPILEKYVRK QQSVEDGLFQ LQSQNLLYQQ QCNDARKKAD NQEKTIINIQ VKCEDTVEKL 550 560 570 580 590 600 QAECRKLEEN NKGLMKECTL LKERQCQYEK EKEEREVVRR QLQREVDDAL NKQLLLEAML 610 620 630 EISSERRINL EDEAQSLKKK LGQMRSQVCM KLSMSTVTL

References

[1]

"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS LYS-392 AND THR-599.

[2]

"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	BX649021 mRNA. No translation available. AP002414 Genomic DNA. No translation available.
IPI	IPI00247110. IPI00888032.
UniGene	Hs.448906
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	A6NC57.
Genome annotation databases
Ensembl	ENST00000314074; ENSP00000326572; ENSG00000181626; Homo sapiens. [Genome view]
UCSC	uc002kqs.2. human.
Organism-specific databases
GeneCards	GC18P012091.
HGNC	HGNC:35241. ANKRD62.
GenAtlas	Search...
Phylogenomic databases
OMA	FHTHERE
OrthoDB	EOG9K9F1T
Gene expression databases
Bgee	A6NC57.
Genevestigator	A6NC57.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 5 hits. [Graphical view]
SMART	SM00248. ANK. 5 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	98353.

Entry information

Entry name

ANR62_HUMAN

Accession

Primary (citable) accession number: A6NC57

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	November 24, 2009
This is version 23 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.