Reviewed, UniProtKB/Swiss-Prot Q8N8V4 (ANS4B_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and SAM domain-containing protein 4B
Alternative name(s):
    Harmonin-interacting ankyrin repeat-containing protein
      Short name=Harp

Gene names

Name:	ANKS4B
Synonyms:	HARP

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

General annotation (Comments)

Subunit structure	Interacts through its C-terminus with USH1C PDZ 1 domain By similarity.
Tissue specificity	Expressed in kidney and small intestine. Ref.2
Sequence similarities	Contains 3 ANK repeats. Contains 1 SAM (sterile alpha motif) domain.

Ontologies

Keywords
Domain	ANK repeat Coiled coil Repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 460	460	Ankyrin repeat and SAM domain-containing protein 4B		PRO_0000066996
Regions
	Repeat	31 – 60	30	ANK 1
	Repeat	64 – 93	30	ANK 2
	Repeat	97 – 126	30	ANK 3
	Domain	351 – 403	53	SAM
	Coiled coil	130 – 164	35	Potential
	Motif	415 – 417	3	PDZ-binding By similarity
Amino acid modifications
	Modified residue	415	1	Phosphothreonine By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q8N8V4-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 7DB5ED6949203C76	FASTA	460	51,187
	10 20 30 40 50 60 MSTRYHQAAS DSYLELLKEA TKRDLNLSDE DGMTPTLLAA YHGNLEALEI ICSRGGDPDR 70 80 90 100 110 120 CDIWGNTPLH FAASNGHAHC VSFLVNFGAN IFALDNDLQT PLDAAASREQ NECVALLDKA 130 140 150 160 170 180 ATAQNIMNPK KVTRLKEQAQ KNARRQIKEC ERLQEKHQNK MAHTYSKEES GTLSSSKGTF 190 200 210 220 230 240 SRSSPSNASA PGTFGSLSKG IKDTFKIKFK KNKDTAEQVG KEGRSGQRNV MEVFREEEED 250 260 270 280 290 300 SFSGDFKEKL QLSAEEDGSV HHESILNRPG LGSIVFRRNR ISSPEDISDS KREFGFKLPS 310 320 330 340 350 360 ELLQRQGASE ADEGAADEEG EENGLKDDLP WDDDEVEWEE DVVDATPLEV FLLSQHLEEF 370 380 390 400 410 420 LPIFKREQID LEALLLCSDE DLQSIQMQLG PRKKVLNAIN RRKQVLQQPG QLVDTSLRWR 430 440 450 460 VLAWSIGVML WPAGSTPGGT PSLPNARPLG MDSRASEMPT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver.
[2]	"Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin." Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C. Hum. Mol. Genet. 12:463-471(2003) [PubMed: 12588794] [Abstract] Cited for: TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK096138 mRNA. Translation: BAC04707.1.
IPI	IPI00167598.
RefSeq	NP_665872.2.
UniGene	Hs.115959
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q8N8V4.
Genome annotation databases
Ensembl	ENST00000311620; ENSP00000308772; ENSG00000175311; Homo sapiens. [Genome view]
GeneID	257629.
KEGG	hsa:257629.
Organism-specific databases
CTD	257629.
GeneCards	GC16P021153.
H-InvDB	HIX0017890.
HGNC	HGNC:26795. ANKS4B.
MIM	609901. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8N8V4.
HOVERGEN	Q8N8V4.
Gene expression databases
ArrayExpress	Q8N8V4.
Bgee	Q8N8V4.
CleanEx	HS_ANKS4B.
Genevestigator	Q8N8V4.
GermOnline	ENSG00000175311. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR001660. SAM. IPR010993. SAM_homology. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 3 hits. PF00536. SAM_1. 1 hit. [Graphical view]
SMART	SM00248. ANK. 3 hits. SM00454. SAM. 1 hit. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. PS50105. SAM_DOMAIN. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	93020.
SOURCE	Search...

Entry information

Entry name

ANS4B_HUMAN

Accession

Primary (citable) accession number: Q8N8V4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 9, 2004
Last sequence update:	October 1, 2002
Last modified:	November 24, 2009
This is version 57 of the entry and version 1 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.