HFM1 - helicase for meiosis 1 Gene

Homo sapiens

Also known as MER3; POF9; Si-11; SEC63D1; Si-11-6; helicase

Gene ID: 164045 | Gene type: protein coding

About HFM1

Cytogenetic location: 1p22.2 Genomic coordinates (GRCh38): 1:91,260,766-91,408,007 (from NCBI)

This gene has 9 transcripts (splice variants), 183 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 6.6), ovary (RPKM 1.4) and 3 other tissues.

Summary

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

HFM1 Products(1)

mRNA	Protein	Name
NM_001017975.6	NP_001017975.5	probable ATP-dependent DNA helicase HFM1

HFM1 Protein Structure

DEAD

Helicase_C

Sec63

0
300
600
900
1200
1435 a.a.

Protein Preferred Names

Protein Names

probable ATP-dependent DNA helicase HFM1

HFM1, ATP dependent DNA helicase homolog

Related Diseases

Diseases

Alias

Premature Ovarian Failure 9

POF9	Ovarian Failure, Premature, Type 9

Spermatogenic Failure 4

Spermatogenesis Arrest	SPGF4
Azoospermia Due To Perturbations Of Meiosis	Azoospermia With Maturation Arrest
Pregnancy Loss, Recurrent, 4	Arrest Of Spermatogenesis
RPRGL4	Recurrent Pregnancy Loss 4

Genetic Non-Acquired Premature Ovarian Failure

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta	IMD25
Immunodeficiency, Type 25

Periarthritis

Frozen Shoulder

Adhesive Capsulitis Of Shoulder	Bursitis
Adhesions-Capsulitis,Shoulder	Pericapsulitis Of Shoulder
Duplay Bursitis	Adhesive Shoulder Peritendinitis
Subscapular Adhesion	Shoulder Adhesion
Adhesive Enthesopathy Of Shoulder Region	Adhesive Peritendinitis
Adhesive Shoulder Tenosynovitis	Duplay Periarthritis
Adhesive Shoulder Tendinitis

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Bursitis

Bursitis, Not Otherwise Specified

Inflammation Of Bursa

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06150	HFM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HFM1	VGNC	VGNC:29832
Mus musculus	HFM1	MGD	MGI:3036246
Felis catus	HFM1	VGNC	VGNC:62805
Rattus norvegicus	HFM1	RGD	RGD:1584010
Canis familiaris	HFM1	VGNC	VGNC:41672